Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Identifieur interne : 001D67 ( PubMed/Checkpoint ); précédent : 001D66; suivant : 001D68Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Auteurs : Franklin L. Zhong [Singapour] ; Ons Mamaï [Tunisie] ; Lorenzo Sborgi [Suisse] ; Lobna Boussofara [Tunisie] ; Richard Hopkins [Singapour] ; Kim Robinson [Singapour] ; Ildik Szeverényi [Singapour] ; Takuya Takeichi [Royaume-Uni] ; Reshmaa Balaji [Singapour] ; Aristotle Lau [Singapour] ; Hazel Tye [Australie] ; Keya Roy [Singapour] ; Carine Bonnard [Singapour] ; Patricia J. Ahl [Singapour] ; Leigh Ann Jones [Singapour] ; Paul J. Baker [Australie] ; Lukas Lacina [Singapour] ; Atsushi Otsuka [Japon] ; Pierre R. Fournie [France] ; François Malecaze [France] ; E Birgitte Lane [Singapour] ; Masashi Akiyama [Japon] ; Kenji Kabashima [Japon] ; John E. Connolly [Singapour] ; Seth L. Masters [Australie] ; Vincent J. Soler [France] ; Salma Samir Omar [Égypte] ; John A. Mcgrath [Royaume-Uni] ; Roxana Nedelcu [Roumanie] ; Moez Gribaa [Tunisie] ; Mohamed Denguezli [Tunisie] ; Ali Saad [Tunisie] ; Sebastian Hiller [Suisse] ; Bruno Reversade [Singapour]Source :
- Cell [ 1097-4172 ] ; 2016.
Descripteurs français
- KwdFr :
- Carcinomes (anatomopathologie), Carcinomes (génétique), Chromosomes humains de la paire 17 (génétique), Communication paracrine, Domaines protéiques, Humains, Hyperplasie (anatomopathologie), Hyperplasie (génétique), Inflammasomes (génétique), Inflammasomes (métabolisme), Interleukine-1 (métabolisme), Kératose (anatomopathologie), Kératose (génétique), Mutation germinale, Pedigree, Protéines adaptatrices de la transduction du signal (), Protéines adaptatrices de la transduction du signal (génétique), Protéines régulatrices de l'apoptose (), Protéines régulatrices de l'apoptose (génétique), Prédisposition génétique à une maladie, Pyrine (), Syndrome, Séquence d'acides aminés, Transduction du signal, Tumeurs cutanées (anatomopathologie), Tumeurs cutanées (génétique), Épiderme (anatomopathologie).
- MESH :
- anatomopathologie : Carcinomes, Hyperplasie, Kératose, Tumeurs cutanées, Épiderme.
- génétique : Carcinomes, Chromosomes humains de la paire 17, Hyperplasie, Inflammasomes, Kératose, Protéines adaptatrices de la transduction du signal, Protéines régulatrices de l'apoptose, Tumeurs cutanées.
- métabolisme : Inflammasomes, Interleukine-1.
- Communication paracrine, Domaines protéiques, Humains, Mutation germinale, Pedigree, Protéines adaptatrices de la transduction du signal, Protéines régulatrices de l'apoptose, Prédisposition génétique à une maladie, Pyrine, Syndrome, Séquence d'acides aminés, Transduction du signal.
English descriptors
- KwdEn :
- Adaptor Proteins, Signal Transducing (chemistry), Adaptor Proteins, Signal Transducing (genetics), Amino Acid Sequence, Apoptosis Regulatory Proteins (chemistry), Apoptosis Regulatory Proteins (genetics), Carcinoma (genetics), Carcinoma (pathology), Chromosomes, Human, Pair 17 (genetics), Epidermis (pathology), Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Hyperplasia (genetics), Hyperplasia (pathology), Inflammasomes (genetics), Inflammasomes (metabolism), Interleukin-1 (metabolism), Keratosis (genetics), Keratosis (pathology), Paracrine Communication, Pedigree, Protein Domains, Pyrin (chemistry), Signal Transduction, Skin Neoplasms (genetics), Skin Neoplasms (pathology), Syndrome.
- MESH :
- chemical , chemistry : Adaptor Proteins, Signal Transducing, Apoptosis Regulatory Proteins, Pyrin.
- chemical , genetics : Adaptor Proteins, Signal Transducing, Apoptosis Regulatory Proteins, Inflammasomes.
- genetics : Carcinoma, Chromosomes, Human, Pair 17, Hyperplasia, Keratosis, Skin Neoplasms.
- chemical , metabolism : Inflammasomes, Interleukin-1.
- pathology : Carcinoma, Epidermis, Hyperplasia, Keratosis, Skin Neoplasms.
- Amino Acid Sequence, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Paracrine Communication, Pedigree, Protein Domains, Signal Transduction, Syndrome.
Abstract
Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles that predispose to inflammasome activation. Mechanistically, NLRP1 mutations lead to increased self-oligomerization by disrupting the PYD and LRR domains, which are essential in maintaining NLRP1 as an inactive monomer. Primary keratinocytes from patients experience spontaneous inflammasome activation and paracrine IL-1 signaling, which is sufficient to cause skin inflammation and epidermal hyperplasia. Our findings establish a group of non-fever inflammasome disorders, uncover an unexpected auto-inhibitory function for the pyrin domain, and provide the first genetic evidence linking NLRP1 to skin inflammatory syndromes and skin cancer predisposition.
DOI: 10.1016/j.cell.2016.09.001
PubMed: 27662089
Affiliations:
- Australie, France, Japon, Roumanie, Royaume-Uni, Singapour, Suisse, Tunisie, Égypte
- Victoria (État)
- Melbourne
- Université de Melbourne
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pubmed:27662089Le document en format XML
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Electronic address: franklin.zhong@reversade.com.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Mamai, Ons" sort="Mamai, Ons" uniqKey="Mamai O" first="Ons" last="Mamaï">Ons Mamaï</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Sborgi, Lorenzo" sort="Sborgi, Lorenzo" uniqKey="Sborgi L" first="Lorenzo" last="Sborgi">Lorenzo Sborgi</name><affiliation wicri:level="1"><nlm:affiliation>Biozentrum, University of Basel, 4056 Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Biozentrum, University of Basel, 4056 Basel</wicri:regionArea><wicri:noRegion>4056 Basel</wicri:noRegion></affiliation></author><author><name sortKey="Boussofara, Lobna" sort="Boussofara, Lobna" uniqKey="Boussofara L" first="Lobna" last="Boussofara">Lobna Boussofara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Hopkins, Richard" sort="Hopkins, Richard" uniqKey="Hopkins R" first="Richard" last="Hopkins">Richard Hopkins</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Kim" sort="Robinson, Kim" uniqKey="Robinson K" first="Kim" last="Robinson">Kim Robinson</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Szeverenyi, Ildik" sort="Szeverenyi, Ildik" uniqKey="Szeverenyi I" first="Ildik" last="Szeverényi">Ildik Szeverényi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Takeichi, Takuya" sort="Takeichi, Takuya" uniqKey="Takeichi T" first="Takuya" last="Takeichi">Takuya Takeichi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA</wicri:regionArea><wicri:noRegion>London SE1 4XA</wicri:noRegion></affiliation></author><author><name sortKey="Balaji, Reshmaa" sort="Balaji, Reshmaa" uniqKey="Balaji R" first="Reshmaa" last="Balaji">Reshmaa Balaji</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Lau, Aristotle" sort="Lau, Aristotle" uniqKey="Lau A" first="Aristotle" last="Lau">Aristotle Lau</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Tye, Hazel" sort="Tye, Hazel" uniqKey="Tye H" first="Hazel" last="Tye">Hazel Tye</name><affiliation wicri:level="4"><nlm:affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Roy, Keya" sort="Roy, Keya" uniqKey="Roy K" first="Keya" last="Roy">Keya Roy</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Ahl, Patricia J" sort="Ahl, Patricia J" uniqKey="Ahl P" first="Patricia J" last="Ahl">Patricia J. Ahl</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Jones, Leigh Ann" sort="Jones, Leigh Ann" uniqKey="Jones L" first="Leigh Ann" last="Jones">Leigh Ann Jones</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Baker, Paul J" sort="Baker, Paul J" uniqKey="Baker P" first="Paul J" last="Baker">Paul J. Baker</name><affiliation wicri:level="4"><nlm:affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Lacina, Lukas" sort="Lacina, Lukas" uniqKey="Lacina L" first="Lukas" last="Lacina">Lukas Lacina</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Otsuka, Atsushi" sort="Otsuka, Atsushi" uniqKey="Otsuka A" first="Atsushi" last="Otsuka">Atsushi Otsuka</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501</wicri:regionArea><wicri:noRegion>Kyoto 606-8501</wicri:noRegion></affiliation></author><author><name sortKey="Fournie, Pierre R" sort="Fournie, Pierre R" uniqKey="Fournie P" first="Pierre R" last="Fournie">Pierre R. Fournie</name><affiliation wicri:level="1"><nlm:affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9</wicri:regionArea><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion></affiliation></author><author><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="François" last="Malecaze">François Malecaze</name><affiliation wicri:level="1"><nlm:affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9</wicri:regionArea><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion></affiliation></author><author><name sortKey="Lane, E Birgitte" sort="Lane, E Birgitte" uniqKey="Lane E" first="E Birgitte" last="Lane">E Birgitte Lane</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Akiyama, Masashi" sort="Akiyama, Masashi" uniqKey="Akiyama M" first="Masashi" last="Akiyama">Masashi Akiyama</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550</wicri:regionArea><wicri:noRegion>Nagoya 466-8550</wicri:noRegion></affiliation></author><author><name sortKey="Kabashima, Kenji" sort="Kabashima, Kenji" uniqKey="Kabashima K" first="Kenji" last="Kabashima">Kenji Kabashima</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501</wicri:regionArea><wicri:noRegion>Kyoto 606-8501</wicri:noRegion></affiliation></author><author><name sortKey="Connolly, John E" sort="Connolly, John E" uniqKey="Connolly J" first="John E" last="Connolly">John E. Connolly</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Masters, Seth L" sort="Masters, Seth L" uniqKey="Masters S" first="Seth L" last="Masters">Seth L. Masters</name><affiliation wicri:level="4"><nlm:affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Soler, Vincent J" sort="Soler, Vincent J" uniqKey="Soler V" first="Vincent J" last="Soler">Vincent J. Soler</name><affiliation wicri:level="1"><nlm:affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9</wicri:regionArea><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion></affiliation></author><author><name sortKey="Omar, Salma Samir" sort="Omar, Salma Samir" uniqKey="Omar S" first="Salma Samir" last="Omar">Salma Samir Omar</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Venereology & Andrology, Faculty of Medicine, Alexandria University, Alexandria 21411, Egypt.</nlm:affiliation><country xml:lang="fr">Égypte</country><wicri:regionArea>Department of Dermatology, Venereology & Andrology, Faculty of Medicine, Alexandria University, Alexandria 21411</wicri:regionArea><wicri:noRegion>Alexandria 21411</wicri:noRegion></affiliation></author><author><name sortKey="Mcgrath, John A" sort="Mcgrath, John A" uniqKey="Mcgrath J" first="John A" last="Mcgrath">John A. Mcgrath</name><affiliation wicri:level="1"><nlm:affiliation>St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA</wicri:regionArea><wicri:noRegion>London SE1 4XA</wicri:noRegion></affiliation></author><author><name sortKey="Nedelcu, Roxana" sort="Nedelcu, Roxana" uniqKey="Nedelcu R" first="Roxana" last="Nedelcu">Roxana Nedelcu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathophysiology II, National Institute for Infectious Diseases "Matei Bals," "Carol Davila" University of Medicine and Pharmacy, Bucharest 050474, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>Department of Pathophysiology II, National Institute for Infectious Diseases "Matei Bals," "Carol Davila" University of Medicine and Pharmacy, Bucharest 050474</wicri:regionArea><wicri:noRegion>Bucharest 050474</wicri:noRegion></affiliation></author><author><name sortKey="Gribaa, Moez" sort="Gribaa, Moez" uniqKey="Gribaa M" first="Moez" last="Gribaa">Moez Gribaa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Denguezli, Mohamed" sort="Denguezli, Mohamed" uniqKey="Denguezli M" first="Mohamed" last="Denguezli">Mohamed Denguezli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Saad, Ali" sort="Saad, Ali" uniqKey="Saad A" first="Ali" last="Saad">Ali Saad</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Hiller, Sebastian" sort="Hiller, Sebastian" uniqKey="Hiller S" first="Sebastian" last="Hiller">Sebastian Hiller</name><affiliation wicri:level="1"><nlm:affiliation>Biozentrum, University of Basel, 4056 Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Biozentrum, University of Basel, 4056 Basel</wicri:regionArea><wicri:noRegion>4056 Basel</wicri:noRegion></affiliation></author><author><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address: bruno@reversade.com.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228</wicri:regionArea><wicri:noRegion>Singapore 119228</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27662089</idno><idno type="pmid">27662089</idno><idno type="doi">10.1016/j.cell.2016.09.001</idno><idno type="wicri:Area/PubMed/Corpus">001939</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001939</idno><idno type="wicri:Area/PubMed/Curation">001916</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001916</idno><idno type="wicri:Area/PubMed/Checkpoint">001916</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001916</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.</title><author><name sortKey="Zhong, Franklin L" sort="Zhong, Franklin L" uniqKey="Zhong F" first="Franklin L" last="Zhong">Franklin L. Zhong</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore. Electronic address: franklin.zhong@reversade.com.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Mamai, Ons" sort="Mamai, Ons" uniqKey="Mamai O" first="Ons" last="Mamaï">Ons Mamaï</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Sborgi, Lorenzo" sort="Sborgi, Lorenzo" uniqKey="Sborgi L" first="Lorenzo" last="Sborgi">Lorenzo Sborgi</name><affiliation wicri:level="1"><nlm:affiliation>Biozentrum, University of Basel, 4056 Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Biozentrum, University of Basel, 4056 Basel</wicri:regionArea><wicri:noRegion>4056 Basel</wicri:noRegion></affiliation></author><author><name sortKey="Boussofara, Lobna" sort="Boussofara, Lobna" uniqKey="Boussofara L" first="Lobna" last="Boussofara">Lobna Boussofara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Hopkins, Richard" sort="Hopkins, Richard" uniqKey="Hopkins R" first="Richard" last="Hopkins">Richard Hopkins</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Kim" sort="Robinson, Kim" uniqKey="Robinson K" first="Kim" last="Robinson">Kim Robinson</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Szeverenyi, Ildik" sort="Szeverenyi, Ildik" uniqKey="Szeverenyi I" first="Ildik" last="Szeverényi">Ildik Szeverényi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Takeichi, Takuya" sort="Takeichi, Takuya" uniqKey="Takeichi T" first="Takuya" last="Takeichi">Takuya Takeichi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA</wicri:regionArea><wicri:noRegion>London SE1 4XA</wicri:noRegion></affiliation></author><author><name sortKey="Balaji, Reshmaa" sort="Balaji, Reshmaa" uniqKey="Balaji R" first="Reshmaa" last="Balaji">Reshmaa Balaji</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Lau, Aristotle" sort="Lau, Aristotle" uniqKey="Lau A" first="Aristotle" last="Lau">Aristotle Lau</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Tye, Hazel" sort="Tye, Hazel" uniqKey="Tye H" first="Hazel" last="Tye">Hazel Tye</name><affiliation wicri:level="4"><nlm:affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Roy, Keya" sort="Roy, Keya" uniqKey="Roy K" first="Keya" last="Roy">Keya Roy</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Ahl, Patricia J" sort="Ahl, Patricia J" uniqKey="Ahl P" first="Patricia J" last="Ahl">Patricia J. Ahl</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Jones, Leigh Ann" sort="Jones, Leigh Ann" uniqKey="Jones L" first="Leigh Ann" last="Jones">Leigh Ann Jones</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Baker, Paul J" sort="Baker, Paul J" uniqKey="Baker P" first="Paul J" last="Baker">Paul J. Baker</name><affiliation wicri:level="4"><nlm:affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Lacina, Lukas" sort="Lacina, Lukas" uniqKey="Lacina L" first="Lukas" last="Lacina">Lukas Lacina</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Otsuka, Atsushi" sort="Otsuka, Atsushi" uniqKey="Otsuka A" first="Atsushi" last="Otsuka">Atsushi Otsuka</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501</wicri:regionArea><wicri:noRegion>Kyoto 606-8501</wicri:noRegion></affiliation></author><author><name sortKey="Fournie, Pierre R" sort="Fournie, Pierre R" uniqKey="Fournie P" first="Pierre R" last="Fournie">Pierre R. Fournie</name><affiliation wicri:level="1"><nlm:affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9</wicri:regionArea><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion></affiliation></author><author><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="François" last="Malecaze">François Malecaze</name><affiliation wicri:level="1"><nlm:affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9</wicri:regionArea><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion></affiliation></author><author><name sortKey="Lane, E Birgitte" sort="Lane, E Birgitte" uniqKey="Lane E" first="E Birgitte" last="Lane">E Birgitte Lane</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Akiyama, Masashi" sort="Akiyama, Masashi" uniqKey="Akiyama M" first="Masashi" last="Akiyama">Masashi Akiyama</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550</wicri:regionArea><wicri:noRegion>Nagoya 466-8550</wicri:noRegion></affiliation></author><author><name sortKey="Kabashima, Kenji" sort="Kabashima, Kenji" uniqKey="Kabashima K" first="Kenji" last="Kabashima">Kenji Kabashima</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501</wicri:regionArea><wicri:noRegion>Kyoto 606-8501</wicri:noRegion></affiliation></author><author><name sortKey="Connolly, John E" sort="Connolly, John E" uniqKey="Connolly J" first="John E" last="Connolly">John E. Connolly</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632</wicri:regionArea><wicri:noRegion>Singapore 138632</wicri:noRegion></affiliation></author><author><name sortKey="Masters, Seth L" sort="Masters, Seth L" uniqKey="Masters S" first="Seth L" last="Masters">Seth L. Masters</name><affiliation wicri:level="4"><nlm:affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Soler, Vincent J" sort="Soler, Vincent J" uniqKey="Soler V" first="Vincent J" last="Soler">Vincent J. Soler</name><affiliation wicri:level="1"><nlm:affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9</wicri:regionArea><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion><wicri:noRegion>31059 Toulouse Cedex 9</wicri:noRegion></affiliation></author><author><name sortKey="Omar, Salma Samir" sort="Omar, Salma Samir" uniqKey="Omar S" first="Salma Samir" last="Omar">Salma Samir Omar</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Venereology & Andrology, Faculty of Medicine, Alexandria University, Alexandria 21411, Egypt.</nlm:affiliation><country xml:lang="fr">Égypte</country><wicri:regionArea>Department of Dermatology, Venereology & Andrology, Faculty of Medicine, Alexandria University, Alexandria 21411</wicri:regionArea><wicri:noRegion>Alexandria 21411</wicri:noRegion></affiliation></author><author><name sortKey="Mcgrath, John A" sort="Mcgrath, John A" uniqKey="Mcgrath J" first="John A" last="Mcgrath">John A. Mcgrath</name><affiliation wicri:level="1"><nlm:affiliation>St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA</wicri:regionArea><wicri:noRegion>London SE1 4XA</wicri:noRegion></affiliation></author><author><name sortKey="Nedelcu, Roxana" sort="Nedelcu, Roxana" uniqKey="Nedelcu R" first="Roxana" last="Nedelcu">Roxana Nedelcu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathophysiology II, National Institute for Infectious Diseases "Matei Bals," "Carol Davila" University of Medicine and Pharmacy, Bucharest 050474, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>Department of Pathophysiology II, National Institute for Infectious Diseases "Matei Bals," "Carol Davila" University of Medicine and Pharmacy, Bucharest 050474</wicri:regionArea><wicri:noRegion>Bucharest 050474</wicri:noRegion></affiliation></author><author><name sortKey="Gribaa, Moez" sort="Gribaa, Moez" uniqKey="Gribaa M" first="Moez" last="Gribaa">Moez Gribaa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Denguezli, Mohamed" sort="Denguezli, Mohamed" uniqKey="Denguezli M" first="Mohamed" last="Denguezli">Mohamed Denguezli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Saad, Ali" sort="Saad, Ali" uniqKey="Saad A" first="Ali" last="Saad">Ali Saad</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse</wicri:regionArea><wicri:noRegion>4000 Sousse</wicri:noRegion></affiliation></author><author><name sortKey="Hiller, Sebastian" sort="Hiller, Sebastian" uniqKey="Hiller S" first="Sebastian" last="Hiller">Sebastian Hiller</name><affiliation wicri:level="1"><nlm:affiliation>Biozentrum, University of Basel, 4056 Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Biozentrum, University of Basel, 4056 Basel</wicri:regionArea><wicri:noRegion>4056 Basel</wicri:noRegion></affiliation></author><author><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address: bruno@reversade.com.</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228</wicri:regionArea><wicri:noRegion>Singapore 119228</wicri:noRegion></affiliation></author></analytic><series><title level="j">Cell</title><idno type="eISSN">1097-4172</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (chemistry)</term><term>Adaptor Proteins, Signal Transducing (genetics)</term><term>Amino Acid Sequence</term><term>Apoptosis Regulatory Proteins (chemistry)</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Carcinoma (genetics)</term><term>Carcinoma (pathology)</term><term>Chromosomes, Human, Pair 17 (genetics)</term><term>Epidermis (pathology)</term><term>Genetic Predisposition to Disease</term><term>Germ-Line Mutation</term><term>Humans</term><term>Hyperplasia (genetics)</term><term>Hyperplasia (pathology)</term><term>Inflammasomes (genetics)</term><term>Inflammasomes (metabolism)</term><term>Interleukin-1 (metabolism)</term><term>Keratosis (genetics)</term><term>Keratosis (pathology)</term><term>Paracrine Communication</term><term>Pedigree</term><term>Protein Domains</term><term>Pyrin (chemistry)</term><term>Signal Transduction</term><term>Skin Neoplasms (genetics)</term><term>Skin Neoplasms (pathology)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Carcinomes (anatomopathologie)</term><term>Carcinomes (génétique)</term><term>Chromosomes humains de la paire 17 (génétique)</term><term>Communication paracrine</term><term>Domaines protéiques</term><term>Humains</term><term>Hyperplasie (anatomopathologie)</term><term>Hyperplasie (génétique)</term><term>Inflammasomes (génétique)</term><term>Inflammasomes (métabolisme)</term><term>Interleukine-1 (métabolisme)</term><term>Kératose (anatomopathologie)</term><term>Kératose (génétique)</term><term>Mutation germinale</term><term>Pedigree</term><term>Protéines adaptatrices de la transduction du signal ()</term><term>Protéines adaptatrices de la transduction du signal (génétique)</term><term>Protéines régulatrices de l'apoptose ()</term><term>Protéines régulatrices de l'apoptose (génétique)</term><term>Prédisposition génétique à une maladie</term><term>Pyrine ()</term><term>Syndrome</term><term>Séquence d'acides aminés</term><term>Transduction du signal</term><term>Tumeurs cutanées (anatomopathologie)</term><term>Tumeurs cutanées (génétique)</term><term>Épiderme (anatomopathologie)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>Apoptosis Regulatory Proteins</term><term>Pyrin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>Apoptosis Regulatory Proteins</term><term>Inflammasomes</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Carcinomes</term><term>Hyperplasie</term><term>Kératose</term><term>Tumeurs cutanées</term><term>Épiderme</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Carcinoma</term><term>Chromosomes, Human, Pair 17</term><term>Hyperplasia</term><term>Keratosis</term><term>Skin Neoplasms</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Carcinomes</term><term>Chromosomes humains de la paire 17</term><term>Hyperplasie</term><term>Inflammasomes</term><term>Kératose</term><term>Protéines adaptatrices de la transduction du signal</term><term>Protéines régulatrices de l'apoptose</term><term>Tumeurs cutanées</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Inflammasomes</term><term>Interleukin-1</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Inflammasomes</term><term>Interleukine-1</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Carcinoma</term><term>Epidermis</term><term>Hyperplasia</term><term>Keratosis</term><term>Skin Neoplasms</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Genetic Predisposition to Disease</term><term>Germ-Line Mutation</term><term>Humans</term><term>Paracrine Communication</term><term>Pedigree</term><term>Protein Domains</term><term>Signal Transduction</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Communication paracrine</term><term>Domaines protéiques</term><term>Humains</term><term>Mutation germinale</term><term>Pedigree</term><term>Protéines adaptatrices de la transduction du signal</term><term>Protéines régulatrices de l'apoptose</term><term>Prédisposition génétique à une maladie</term><term>Pyrine</term><term>Syndrome</term><term>Séquence d'acides aminés</term><term>Transduction du signal</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles that predispose to inflammasome activation. Mechanistically, NLRP1 mutations lead to increased self-oligomerization by disrupting the PYD and LRR domains, which are essential in maintaining NLRP1 as an inactive monomer. Primary keratinocytes from patients experience spontaneous inflammasome activation and paracrine IL-1 signaling, which is sufficient to cause skin inflammation and epidermal hyperplasia. Our findings establish a group of non-fever inflammasome disorders, uncover an unexpected auto-inhibitory function for the pyrin domain, and provide the first genetic evidence linking NLRP1 to skin inflammatory syndromes and skin cancer predisposition.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27662089</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>24</Day></DateCreated><DateCompleted><Year>2016</Year><Month>12</Month><Day>27</Day></DateCompleted><DateRevised><Year>2017</Year><Month>08</Month><Day>27</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1097-4172</ISSN><JournalIssue CitedMedium="Internet"><Volume>167</Volume><Issue>1</Issue><PubDate><Year>2016</Year><Month>Sep</Month><Day>22</Day></PubDate></JournalIssue><Title>Cell</Title><ISOAbbreviation>Cell</ISOAbbreviation></Journal><ArticleTitle>Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.</ArticleTitle><Pagination><MedlinePgn>187-202.e17</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0092-8674(16)31229-6</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.cell.2016.09.001</ELocationID><Abstract><AbstractText>Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles that predispose to inflammasome activation. Mechanistically, NLRP1 mutations lead to increased self-oligomerization by disrupting the PYD and LRR domains, which are essential in maintaining NLRP1 as an inactive monomer. Primary keratinocytes from patients experience spontaneous inflammasome activation and paracrine IL-1 signaling, which is sufficient to cause skin inflammation and epidermal hyperplasia. Our findings establish a group of non-fever inflammasome disorders, uncover an unexpected auto-inhibitory function for the pyrin domain, and provide the first genetic evidence linking NLRP1 to skin inflammatory syndromes and skin cancer predisposition.</AbstractText><CopyrightInformation>Copyright © 2016 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Zhong</LastName><ForeName>Franklin L</ForeName><Initials>FL</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore. Electronic address: franklin.zhong@reversade.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mamaï</LastName><ForeName>Ons</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sborgi</LastName><ForeName>Lorenzo</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Biozentrum, University of Basel, 4056 Basel, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boussofara</LastName><ForeName>Lobna</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hopkins</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Robinson</LastName><ForeName>Kim</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Szeverényi</LastName><ForeName>Ildikó</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Takeichi</LastName><ForeName>Takuya</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Balaji</LastName><ForeName>Reshmaa</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lau</LastName><ForeName>Aristotle</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tye</LastName><ForeName>Hazel</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Roy</LastName><ForeName>Keya</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bonnard</LastName><ForeName>Carine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahl</LastName><ForeName>Patricia J</ForeName><Initials>PJ</Initials><AffiliationInfo><Affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jones</LastName><ForeName>Leigh Ann</ForeName><Initials>LA</Initials><AffiliationInfo><Affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baker</LastName><ForeName>Paul J</ForeName><Initials>PJ</Initials><AffiliationInfo><Affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lacina</LastName><ForeName>Lukas</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Otsuka</LastName><ForeName>Atsushi</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fournie</LastName><ForeName>Pierre R</ForeName><Initials>PR</Initials><AffiliationInfo><Affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Malecaze</LastName><ForeName>François</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lane</LastName><ForeName>E Birgitte</ForeName><Initials>EB</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Akiyama</LastName><ForeName>Masashi</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kabashima</LastName><ForeName>Kenji</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Connolly</LastName><ForeName>John E</ForeName><Initials>JE</Initials><AffiliationInfo><Affiliation>Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Masters</LastName><ForeName>Seth L</ForeName><Initials>SL</Initials><AffiliationInfo><Affiliation>Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Soler</LastName><ForeName>Vincent J</ForeName><Initials>VJ</Initials><AffiliationInfo><Affiliation>Ophthalmology Department, Hôpital Pierre-Paul Riquet, University Toulouse Hospital, TSA 40031, Place Baylac, 31059 Toulouse Cedex 9, France; Team Epithéliums, physiopathologie et génétique oculaires, Unité "Différenciation Epithéliale et Autoimmunité Rhumatoïde, UMR 1056 Inserm, Université Paul Sabatier Toulouse III, FRE 3742 CNRS, Hôpital Purpan, 31059 Toulouse Cedex 9, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Omar</LastName><ForeName>Salma Samir</ForeName><Initials>SS</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Venereology & Andrology, Faculty of Medicine, Alexandria University, Alexandria 21411, Egypt.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McGrath</LastName><ForeName>John A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>St John's Institute of Dermatology, King's College London, Guy's Hospital, London SE1 4XA, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nedelcu</LastName><ForeName>Roxana</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Pathophysiology II, National Institute for Infectious Diseases "Matei Bals," "Carol Davila" University of Medicine and Pharmacy, Bucharest 050474, Romania.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gribaa</LastName><ForeName>Moez</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Denguezli</LastName><ForeName>Mohamed</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Dermatology and Venerology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saad</LastName><ForeName>Ali</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hiller</LastName><ForeName>Sebastian</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Biozentrum, University of Basel, 4056 Basel, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reversade</LastName><ForeName>Bruno</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address: bruno@reversade.com.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Cell</MedlineTA><NlmUniqueID>0413066</NlmUniqueID><ISSNLinking>0092-8674</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D048868">Adaptor Proteins, Signal Transducing</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051017">Apoptosis Regulatory Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D058847">Inflammasomes</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007375">Interleukin-1</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C427903">NLRP1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000071198">Pyrin</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D048868" MajorTopicYN="N">Adaptor Proteins, Signal Transducing</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051017" MajorTopicYN="N">Apoptosis Regulatory Proteins</DescriptorName><QualifierName UI="Q000737" 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MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006965" MajorTopicYN="N">Hyperplasia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D058847" MajorTopicYN="N">Inflammasomes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007375" MajorTopicYN="N">Interleukin-1</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007642" MajorTopicYN="N">Keratosis</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019899" MajorTopicYN="N">Paracrine Communication</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000072417" MajorTopicYN="N">Protein Domains</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000071198" MajorTopicYN="N">Pyrin</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015398" MajorTopicYN="N">Signal Transduction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012878" MajorTopicYN="N">Skin Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ASC</Keyword><Keyword MajorTopicYN="N">IL-1</Keyword><Keyword MajorTopicYN="N">MSPC</Keyword><Keyword MajorTopicYN="N">MSSE</Keyword><Keyword MajorTopicYN="N">NLRP1</Keyword><Keyword MajorTopicYN="N">cancer</Keyword><Keyword MajorTopicYN="N">gain-of-function</Keyword><Keyword MajorTopicYN="N">genodermatosis</Keyword><Keyword MajorTopicYN="N">germline</Keyword><Keyword MajorTopicYN="N">inflammasome</Keyword><Keyword MajorTopicYN="N">keratinocytes</Keyword><Keyword MajorTopicYN="N">keratosis lichenoides chronica</Keyword><Keyword MajorTopicYN="N">multiple self-healing squamous cell carcinoma</Keyword><Keyword MajorTopicYN="N">skin inflammation</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>12</Month><Day>01</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>06</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>08</Month><Day>31</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>9</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>9</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>12</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27662089</ArticleId><ArticleId IdType="pii">S0092-8674(16)31229-6</ArticleId><ArticleId IdType="doi">10.1016/j.cell.2016.09.001</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>France</li><li>Japon</li><li>Roumanie</li><li>Royaume-Uni</li><li>Singapour</li><li>Suisse</li><li>Tunisie</li><li>Égypte</li></country><region><li>Victoria (État)</li></region><settlement><li>Melbourne</li></settlement><orgName><li>Université de Melbourne</li></orgName></list><tree><country name="Singapour"><noRegion><name sortKey="Zhong, Franklin L" sort="Zhong, Franklin L" uniqKey="Zhong F" first="Franklin L" last="Zhong">Franklin L. 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Connolly</name><name sortKey="Hopkins, Richard" sort="Hopkins, Richard" uniqKey="Hopkins R" first="Richard" last="Hopkins">Richard Hopkins</name><name sortKey="Jones, Leigh Ann" sort="Jones, Leigh Ann" uniqKey="Jones L" first="Leigh Ann" last="Jones">Leigh Ann Jones</name><name sortKey="Lacina, Lukas" sort="Lacina, Lukas" uniqKey="Lacina L" first="Lukas" last="Lacina">Lukas Lacina</name><name sortKey="Lane, E Birgitte" sort="Lane, E Birgitte" uniqKey="Lane E" first="E Birgitte" last="Lane">E Birgitte Lane</name><name sortKey="Lau, Aristotle" sort="Lau, Aristotle" uniqKey="Lau A" first="Aristotle" last="Lau">Aristotle Lau</name><name sortKey="Reversade, Bruno" sort="Reversade, Bruno" uniqKey="Reversade B" first="Bruno" last="Reversade">Bruno Reversade</name><name sortKey="Robinson, Kim" sort="Robinson, Kim" uniqKey="Robinson K" first="Kim" last="Robinson">Kim Robinson</name><name sortKey="Roy, Keya" sort="Roy, Keya" uniqKey="Roy K" first="Keya" last="Roy">Keya Roy</name><name sortKey="Szeverenyi, Ildik" sort="Szeverenyi, Ildik" uniqKey="Szeverenyi I" first="Ildik" last="Szeverényi">Ildik Szeverényi</name></country><country name="Tunisie"><noRegion><name sortKey="Mamai, Ons" sort="Mamai, Ons" uniqKey="Mamai O" first="Ons" last="Mamaï">Ons Mamaï</name></noRegion><name sortKey="Boussofara, Lobna" sort="Boussofara, Lobna" uniqKey="Boussofara L" first="Lobna" last="Boussofara">Lobna Boussofara</name><name sortKey="Denguezli, Mohamed" sort="Denguezli, Mohamed" uniqKey="Denguezli M" first="Mohamed" last="Denguezli">Mohamed Denguezli</name><name sortKey="Gribaa, Moez" sort="Gribaa, Moez" uniqKey="Gribaa M" first="Moez" last="Gribaa">Moez Gribaa</name><name sortKey="Saad, Ali" sort="Saad, Ali" uniqKey="Saad A" first="Ali" last="Saad">Ali Saad</name></country><country name="Suisse"><noRegion><name sortKey="Sborgi, Lorenzo" sort="Sborgi, Lorenzo" uniqKey="Sborgi L" first="Lorenzo" last="Sborgi">Lorenzo Sborgi</name></noRegion><name sortKey="Hiller, Sebastian" sort="Hiller, Sebastian" uniqKey="Hiller S" first="Sebastian" last="Hiller">Sebastian Hiller</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Takeichi, Takuya" sort="Takeichi, Takuya" uniqKey="Takeichi T" first="Takuya" last="Takeichi">Takuya Takeichi</name></noRegion><name sortKey="Mcgrath, John A" sort="Mcgrath, John A" uniqKey="Mcgrath J" first="John A" last="Mcgrath">John A. Mcgrath</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Tye, Hazel" sort="Tye, Hazel" uniqKey="Tye H" first="Hazel" last="Tye">Hazel Tye</name></region><name sortKey="Baker, Paul J" sort="Baker, Paul J" uniqKey="Baker P" first="Paul J" last="Baker">Paul J. Baker</name><name sortKey="Masters, Seth L" sort="Masters, Seth L" uniqKey="Masters S" first="Seth L" last="Masters">Seth L. Masters</name></country><country name="Japon"><noRegion><name sortKey="Otsuka, Atsushi" sort="Otsuka, Atsushi" uniqKey="Otsuka A" first="Atsushi" last="Otsuka">Atsushi Otsuka</name></noRegion><name sortKey="Akiyama, Masashi" sort="Akiyama, Masashi" uniqKey="Akiyama M" first="Masashi" last="Akiyama">Masashi Akiyama</name><name sortKey="Kabashima, Kenji" sort="Kabashima, Kenji" uniqKey="Kabashima K" first="Kenji" last="Kabashima">Kenji Kabashima</name></country><country name="France"><noRegion><name sortKey="Fournie, Pierre R" sort="Fournie, Pierre R" uniqKey="Fournie P" first="Pierre R" last="Fournie">Pierre R. Fournie</name></noRegion><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="François" last="Malecaze">François Malecaze</name><name sortKey="Soler, Vincent J" sort="Soler, Vincent J" uniqKey="Soler V" first="Vincent J" last="Soler">Vincent J. Soler</name></country><country name="Égypte"><noRegion><name sortKey="Omar, Salma Samir" sort="Omar, Salma Samir" uniqKey="Omar S" first="Salma Samir" last="Omar">Salma Samir Omar</name></noRegion></country><country name="Roumanie"><noRegion><name sortKey="Nedelcu, Roxana" sort="Nedelcu, Roxana" uniqKey="Nedelcu R" first="Roxana" last="Nedelcu">Roxana Nedelcu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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