Favourable effect of TNF‐α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novoCARD15 mutation
Identifieur interne : 001D30 ( Main/Exploration ); précédent : 001D29; suivant : 001D31Favourable effect of TNF‐α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novoCARD15 mutation
Auteurs : Nils Milman [Danemark] ; Claus B. Andersen ; Annette Hansen ; Thomas Van Overeem Hansen ; Finn C. Nielsen ; Hans Fledelius ; Peter Ahrens ; Ole Haagen Nielsen [Danemark]Source :
- APMIS [ 0903-4641 ] ; 2006-12.
Descripteurs français
- KwdFr :
- ADN (), ADN (génétique), Adulte, Anti-inflammatoires (usage thérapeutique), Anticorps monoclonaux (usage thérapeutique), Arthrite (), Arthrite (anatomopathologie), Arthrite (génétique), Exanthème (), Exanthème (anatomopathologie), Exanthème (génétique), Humains, Infliximab, Jumeaux monozygotes, Maladies chez les jumeaux (génétique), Mâle, Polymorphisme de nucléotide simple, Protéine adaptatrice de signalisation NOD2 (génétique), Réaction de polymérisation en chaîne, Syndrome, Uvéite (), Uvéite (anatomopathologie), Uvéite (génétique).
- MESH :
- anatomopathologie : Arthrite, Exanthème, Uvéite.
- génétique : ADN, Arthrite, Exanthème, Maladies chez les jumeaux, Protéine adaptatrice de signalisation NOD2, Uvéite.
- usage thérapeutique : Anti-inflammatoires, Anticorps monoclonaux.
- ADN, Adulte, Arthrite, Exanthème, Humains, Infliximab, Jumeaux monozygotes, Mâle, Polymorphisme de nucléotide simple, Réaction de polymérisation en chaîne, Syndrome, Uvéite.
English descriptors
- KwdEn :
- Adult, Anti-Inflammatory Agents (therapeutic use), Antibodies, Monoclonal (therapeutic use), Arthritis (genetics), Arthritis (pathology), Arthritis (therapy), DNA (chemistry), DNA (genetics), Diseases in Twins (genetics), Exanthema (genetics), Exanthema (pathology), Exanthema (therapy), Humans, Infliximab, Male, Nod2 Signaling Adaptor Protein (genetics), Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Syndrome, Twins, Monozygotic, Uveitis (genetics), Uveitis (pathology), Uveitis (therapy).
- MESH :
- chemical , chemistry : DNA.
- chemical , genetics : DNA, Nod2 Signaling Adaptor Protein.
- chemical , therapeutic use : Anti-Inflammatory Agents, Antibodies, Monoclonal.
- genetics : Arthritis, Diseases in Twins, Exanthema, Uveitis.
- pathology : Arthritis, Exanthema, Uveitis.
- therapy : Arthritis, Exanthema, Uveitis.
- Teeft :
- Adult, Antituberculous, Antituberculous treatment, Arthritis, Biopsy, Biopsy specimens, Blau, Blau syndrome, Body weight, Clinical features, Codon, Early onset sarcoidosis, Epithelioid, Epithelioid cell granulomas, Exanthema, Granuloma, Granulomatous, Histochemical staining, Humans, Immunohistochemical staining, Immunosuppressive treatment, Infliximab, Inhibitor, Lung function tests, Male, Methotrexate, Monozygotic, Monozygotic twins, Multinucleated giant cells, Mutation, Mycobacteria, Mycobacterial infection, Orbital regions, Plasma calcium, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Prednisolone, Renal function, Respiratory tract infections, Sarcoidosis, Side effects, Skin biopsy, Syndrome, Twins, Monozygotic, Uveitis.
Abstract
Blau syndrome is a hereditary granulomatous disease caused by mutations in the CARD15 gene that is diagnosed in children of young age with exanthema/erythema, arthritis/periarthritis and/or uveitis. We report two cases of Blau syndrome in Danish Caucasian monozygotic male twins, exhibiting a heterozygous de novo R334W mutation in codon 334 of CARD15. The patients were initially diagnosed as having sarcoidosis. In both twins, symptoms (exanthema, arthritis/periarthritis) started at 1 year of age, and were followed by uveitis at 7–10 years of age. There was no involvement of the lungs or other organs. An initial course of standard antituberculous treatment had no effect on the symptoms. Hydroxychloroquine and cyclosporine A were also ineffective, and the latter caused impaired renal function. Partial symptomatic relief was obtained with prednisolone and increased benefit was observed in combination with methotrexate. Subsequent introduction of the TNF‐α inhibitor eternacept did not discernibly benefit the clinical condition, but was associated with recurrent infections. In contrast, a trial of infliximab therapy demonstrated clinical efficacy and eliminated all symptoms, restoring a high quality of life. At follow up at 20 years of age (after 2–5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short‐term prognosis of the disease. Blau syndrome has pathologic, clinical and therapeutic features in common with sarcoidosis, but rarely involves the lungs or other parenchymatous organs. In children, discrimination between early onset sarcoidosis and Blau syndrome should include a CARD15 mutation analysis.
Url:
DOI: 10.1111/j.1600-0463.2006.apm_522.x
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000941
- to stream Istex, to step Curation: 000941
- to stream Istex, to step Checkpoint: 000B98
- to stream PubMed, to step Corpus: 000428
- to stream PubMed, to step Curation: 000428
- to stream PubMed, to step Checkpoint: 000419
- to stream Ncbi, to step Merge: 000098
- to stream Ncbi, to step Curation: 000098
- to stream Ncbi, to step Checkpoint: 000098
- to stream Main, to step Merge: 001D42
- to stream Main, to step Curation: 001D30
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Favourable effect of TNF‐α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novoCARD15 mutation</title><author><name sortKey="Milman, Nils" sort="Milman, Nils" uniqKey="Milman N" first="Nils" last="Milman">Nils Milman</name></author><author><name sortKey="Andersen, Claus B" sort="Andersen, Claus B" uniqKey="Andersen C" first="Claus B." last="Andersen">Claus B. Andersen</name></author><author><name sortKey="Hansen, Annette" sort="Hansen, Annette" uniqKey="Hansen A" first="Annette" last="Hansen">Annette Hansen</name></author><author><name sortKey="Van Overeem Hansen, Thomas" sort="Van Overeem Hansen, Thomas" uniqKey="Van Overeem Hansen T" first="Thomas" last="Van Overeem Hansen">Thomas Van Overeem Hansen</name></author><author><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C." last="Nielsen">Finn C. Nielsen</name></author><author><name sortKey="Fledelius, Hans" sort="Fledelius, Hans" uniqKey="Fledelius H" first="Hans" last="Fledelius">Hans Fledelius</name></author><author><name sortKey="Ahrens, Peter" sort="Ahrens, Peter" uniqKey="Ahrens P" first="Peter" last="Ahrens">Peter Ahrens</name></author><author><name sortKey="Nielsen, Ole Haagen" sort="Nielsen, Ole Haagen" uniqKey="Nielsen O" first="Ole Haagen" last="Nielsen">Ole Haagen Nielsen</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:34BD0E4A0F2B836B4EDF9643D332BE4D8C5786EE</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1111/j.1600-0463.2006.apm_522.x</idno><idno type="url">https://api.istex.fr/ark:/67375/WNG-H8B73NFZ-R/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">000941</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000941</idno><idno type="wicri:Area/Istex/Curation">000941</idno><idno type="wicri:Area/Istex/Checkpoint">000B98</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000B98</idno><idno type="wicri:doubleKey">0903-4641:2006:Milman N:favourable:effect:of</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:17207093</idno><idno type="wicri:Area/PubMed/Corpus">000428</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000428</idno><idno type="wicri:Area/PubMed/Curation">000428</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000428</idno><idno type="wicri:Area/PubMed/Checkpoint">000419</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000419</idno><idno type="wicri:Area/Ncbi/Merge">000098</idno><idno type="wicri:Area/Ncbi/Curation">000098</idno><idno type="wicri:Area/Ncbi/Checkpoint">000098</idno><idno type="wicri:doubleKey">0903-4641:2006:Milman N:favourable:effect:of</idno><idno type="wicri:Area/Main/Merge">001D42</idno><idno type="wicri:Area/Main/Curation">001D30</idno><idno type="wicri:Area/Main/Exploration">001D30</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Favourable effect of TNF‐α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novoCARD15 mutation</title><author><name sortKey="Milman, Nils" sort="Milman, Nils" uniqKey="Milman N" first="Nils" last="Milman">Nils Milman</name><affiliation></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Danemark</country></affiliation></author><author><name sortKey="Andersen, Claus B" sort="Andersen, Claus B" uniqKey="Andersen C" first="Claus B." last="Andersen">Claus B. Andersen</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hansen, Annette" sort="Hansen, Annette" uniqKey="Hansen A" first="Annette" last="Hansen">Annette Hansen</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Van Overeem Hansen, Thomas" sort="Van Overeem Hansen, Thomas" uniqKey="Van Overeem Hansen T" first="Thomas" last="Van Overeem Hansen">Thomas Van Overeem Hansen</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C." last="Nielsen">Finn C. Nielsen</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Fledelius, Hans" sort="Fledelius, Hans" uniqKey="Fledelius H" first="Hans" last="Fledelius">Hans Fledelius</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Ahrens, Peter" sort="Ahrens, Peter" uniqKey="Ahrens P" first="Peter" last="Ahrens">Peter Ahrens</name><affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Nielsen, Ole Haagen" sort="Nielsen, Ole Haagen" uniqKey="Nielsen O" first="Ole Haagen" last="Nielsen">Ole Haagen Nielsen</name><affiliation wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Gastroenterology C, Herlev Hospital, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">APMIS</title><title level="j" type="alt">APMIS</title><idno type="ISSN">0903-4641</idno><idno type="eISSN">1600-0463</idno><imprint><biblScope unit="vol">114</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="912">912</biblScope><biblScope unit="page" to="919">919</biblScope><biblScope unit="page-count">8</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2006-12">2006-12</date></imprint><idno type="ISSN">0903-4641</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0903-4641</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Anti-Inflammatory Agents (therapeutic use)</term><term>Antibodies, Monoclonal (therapeutic use)</term><term>Arthritis (genetics)</term><term>Arthritis (pathology)</term><term>Arthritis (therapy)</term><term>DNA (chemistry)</term><term>DNA (genetics)</term><term>Diseases in Twins (genetics)</term><term>Exanthema (genetics)</term><term>Exanthema (pathology)</term><term>Exanthema (therapy)</term><term>Humans</term><term>Infliximab</term><term>Male</term><term>Nod2 Signaling Adaptor Protein (genetics)</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Single Nucleotide</term><term>Syndrome</term><term>Twins, Monozygotic</term><term>Uveitis (genetics)</term><term>Uveitis (pathology)</term><term>Uveitis (therapy)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN ()</term><term>ADN (génétique)</term><term>Adulte</term><term>Anti-inflammatoires (usage thérapeutique)</term><term>Anticorps monoclonaux (usage thérapeutique)</term><term>Arthrite ()</term><term>Arthrite (anatomopathologie)</term><term>Arthrite (génétique)</term><term>Exanthème ()</term><term>Exanthème (anatomopathologie)</term><term>Exanthème (génétique)</term><term>Humains</term><term>Infliximab</term><term>Jumeaux monozygotes</term><term>Maladies chez les jumeaux (génétique)</term><term>Mâle</term><term>Polymorphisme de nucléotide simple</term><term>Protéine adaptatrice de signalisation NOD2 (génétique)</term><term>Réaction de polymérisation en chaîne</term><term>Syndrome</term><term>Uvéite ()</term><term>Uvéite (anatomopathologie)</term><term>Uvéite (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>Nod2 Signaling Adaptor Protein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Anti-Inflammatory Agents</term><term>Antibodies, Monoclonal</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Arthrite</term><term>Exanthème</term><term>Uvéite</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arthritis</term><term>Diseases in Twins</term><term>Exanthema</term><term>Uveitis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ADN</term><term>Arthrite</term><term>Exanthème</term><term>Maladies chez les jumeaux</term><term>Protéine adaptatrice de signalisation NOD2</term><term>Uvéite</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Arthritis</term><term>Exanthema</term><term>Uveitis</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Arthritis</term><term>Exanthema</term><term>Uveitis</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Anti-inflammatoires</term><term>Anticorps monoclonaux</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Adult</term><term>Antituberculous</term><term>Antituberculous treatment</term><term>Arthritis</term><term>Biopsy</term><term>Biopsy specimens</term><term>Blau</term><term>Blau syndrome</term><term>Body weight</term><term>Clinical features</term><term>Codon</term><term>Early onset sarcoidosis</term><term>Epithelioid</term><term>Epithelioid cell granulomas</term><term>Exanthema</term><term>Granuloma</term><term>Granulomatous</term><term>Histochemical staining</term><term>Humans</term><term>Immunohistochemical staining</term><term>Immunosuppressive treatment</term><term>Infliximab</term><term>Inhibitor</term><term>Lung function tests</term><term>Male</term><term>Methotrexate</term><term>Monozygotic</term><term>Monozygotic twins</term><term>Multinucleated giant cells</term><term>Mutation</term><term>Mycobacteria</term><term>Mycobacterial infection</term><term>Orbital regions</term><term>Plasma calcium</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Single Nucleotide</term><term>Prednisolone</term><term>Renal function</term><term>Respiratory tract infections</term><term>Sarcoidosis</term><term>Side effects</term><term>Skin biopsy</term><term>Syndrome</term><term>Twins, Monozygotic</term><term>Uveitis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>ADN</term><term>Adulte</term><term>Arthrite</term><term>Exanthème</term><term>Humains</term><term>Infliximab</term><term>Jumeaux monozygotes</term><term>Mâle</term><term>Polymorphisme de nucléotide simple</term><term>Réaction de polymérisation en chaîne</term><term>Syndrome</term><term>Uvéite</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Blau syndrome is a hereditary granulomatous disease caused by mutations in the CARD15 gene that is diagnosed in children of young age with exanthema/erythema, arthritis/periarthritis and/or uveitis. We report two cases of Blau syndrome in Danish Caucasian monozygotic male twins, exhibiting a heterozygous de novo R334W mutation in codon 334 of CARD15. The patients were initially diagnosed as having sarcoidosis. In both twins, symptoms (exanthema, arthritis/periarthritis) started at 1 year of age, and were followed by uveitis at 7–10 years of age. There was no involvement of the lungs or other organs. An initial course of standard antituberculous treatment had no effect on the symptoms. Hydroxychloroquine and cyclosporine A were also ineffective, and the latter caused impaired renal function. Partial symptomatic relief was obtained with prednisolone and increased benefit was observed in combination with methotrexate. Subsequent introduction of the TNF‐α inhibitor eternacept did not discernibly benefit the clinical condition, but was associated with recurrent infections. In contrast, a trial of infliximab therapy demonstrated clinical efficacy and eliminated all symptoms, restoring a high quality of life. At follow up at 20 years of age (after 2–5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short‐term prognosis of the disease. Blau syndrome has pathologic, clinical and therapeutic features in common with sarcoidosis, but rarely involves the lungs or other parenchymatous organs. In children, discrimination between early onset sarcoidosis and Blau syndrome should include a CARD15 mutation analysis.</div></front></TEI><affiliations><list><country><li>Danemark</li></country><region><li>Hovedstaden</li></region><settlement><li>Copenhague</li></settlement></list><tree><noCountry><name sortKey="Ahrens, Peter" sort="Ahrens, Peter" uniqKey="Ahrens P" first="Peter" last="Ahrens">Peter Ahrens</name><name sortKey="Andersen, Claus B" sort="Andersen, Claus B" uniqKey="Andersen C" first="Claus B." last="Andersen">Claus B. Andersen</name><name sortKey="Fledelius, Hans" sort="Fledelius, Hans" uniqKey="Fledelius H" first="Hans" last="Fledelius">Hans Fledelius</name><name sortKey="Hansen, Annette" sort="Hansen, Annette" uniqKey="Hansen A" first="Annette" last="Hansen">Annette Hansen</name><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C." last="Nielsen">Finn C. Nielsen</name><name sortKey="Van Overeem Hansen, Thomas" sort="Van Overeem Hansen, Thomas" uniqKey="Van Overeem Hansen T" first="Thomas" last="Van Overeem Hansen">Thomas Van Overeem Hansen</name></noCountry><country name="Danemark"><noRegion><name sortKey="Milman, Nils" sort="Milman, Nils" uniqKey="Milman N" first="Nils" last="Milman">Nils Milman</name></noRegion><name sortKey="Nielsen, Ole Haagen" sort="Nielsen, Ole Haagen" uniqKey="Nielsen O" first="Ole Haagen" last="Nielsen">Ole Haagen Nielsen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Sante/explor/ChloroquineV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001D30 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001D30 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Sante
|area= ChloroquineV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:34BD0E4A0F2B836B4EDF9643D332BE4D8C5786EE
|texte= Favourable effect of TNF‐α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novoCARD15 mutation
}}
| This area was generated with Dilib version V0.6.33. |  |