X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Identifieur interne : 009943 ( Main/Exploration ); précédent : 009942; suivant : 009944X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Auteurs : R. Döffinger [France] ; A. Smahi ; C. Bessia ; F. Geissmann ; J. Feinberg ; A. Durandy ; C. Bodemer ; S. Kenwrick ; S. Dupuis-Girod ; S. Blanche ; P. Wood ; S H Rabia ; D J Headon ; P A Overbeek ; F. Le Deist ; S M Holland ; K. Belani ; D S Kumararatne ; A. Fischer ; R. Shapiro ; M E Conley ; E. Reimund ; H. Kalhoff ; M. Abinun ; A. Munnich ; A. Israël ; G. Courtois ; J L CasanovaSource :
- Nature genetics [ 1061-4036 ] ; 2001.
Descripteurs français
- KwdFr :
- Adolescent, Chromosome X (génétique), Codon stop (génétique), Dysplasie ectodermique (génétique), Dysplasie ectodermique (immunologie), Dysplasie ectodermique (métabolisme), Déficits immunitaires (génétique), Déficits immunitaires (immunologie), Déficits immunitaires (métabolisme), Ectodysplasines, Enfant, Enfant d'âge préscolaire, Facteur de transcription NF-kappa B (métabolisme), Humains, I-kappa B Kinase, Immunité cellulaire, Liaison génétique, Mutation, Mâle, Nourrisson, Protein-Serine-Threonine Kinases (génétique), Protein-Serine-Threonine Kinases (métabolisme), Protéines membranaires (métabolisme), Syndrome, Transduction du signal.
- MESH :
- génétique : Chromosome X, Codon stop, Dysplasie ectodermique, Déficits immunitaires, Protein-Serine-Threonine Kinases.
- immunologie : Dysplasie ectodermique, Déficits immunitaires.
- métabolisme : Dysplasie ectodermique, Déficits immunitaires, Facteur de transcription NF-kappa B, Protein-Serine-Threonine Kinases, Protéines membranaires.
- Adolescent, Ectodysplasines, Enfant, Enfant d'âge préscolaire, Humains, I-kappa B Kinase, Immunité cellulaire, Liaison génétique, Mutation, Mâle, Nourrisson, Syndrome, Transduction du signal.
English descriptors
- KwdEn :
- Adolescent, Child, Child, Preschool, Codon, Terminator (genetics), Ectodermal Dysplasia (genetics), Ectodermal Dysplasia (immunology), Ectodermal Dysplasia (metabolism), Ectodysplasins, Genetic Linkage, Humans, I-kappa B Kinase, Immunity, Cellular, Immunologic Deficiency Syndromes (genetics), Immunologic Deficiency Syndromes (immunology), Immunologic Deficiency Syndromes (metabolism), Infant, Male, Membrane Proteins (metabolism), Mutation, NF-kappa B (metabolism), Protein-Serine-Threonine Kinases (genetics), Protein-Serine-Threonine Kinases (metabolism), Signal Transduction, Syndrome, X Chromosome (genetics).
- MESH :
- chemical , genetics : Codon, Terminator, Protein-Serine-Threonine Kinases.
- genetics : Ectodermal Dysplasia, Immunologic Deficiency Syndromes, X Chromosome.
- immunology : Ectodermal Dysplasia, Immunologic Deficiency Syndromes.
- metabolism : Ectodermal Dysplasia, Immunologic Deficiency Syndromes, Membrane Proteins, NF-kappa B, Protein-Serine-Threonine Kinases.
- Adolescent, Child, Child, Preschool, Ectodysplasins, Genetic Linkage, Humans, I-kappa B Kinase, Immunity, Cellular, Infant, Male, Mutation, Signal Transduction, Syndrome.
Abstract
The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). Mutations in the coding region of IKBKG are associated with EDA-ID, and stop codon mutations, with OL-EDA-ID. IKBKG encodes NEMO, the regulatory subunit of the IKK (IkappaB kinase) complex, which is essential for NF-kappaB signaling. Germline loss-of-function mutations in IKBKG are lethal in male fetuses. We show that IKBKG mutations causing OL-EDA-ID and EDA-ID impair but do not abolish NF-kappaB signaling. We also show that the ectodysplasin receptor, DL, triggers NF-kappaB through the NEMO protein, indicating that EDA results from impaired NF-kappaB signaling. Finally, we show that abnormal immunity in OL-EDA-ID patients results from impaired cell responses to lipopolysaccharide, interleukin (IL)-1beta, IL-18, TNFalpha and CD154. We thus report for the first time that impaired but not abolished NF-kappaB signaling in humans results in two related syndromes that associate specific developmental and immunological defects.
DOI: 10.1038/85837
PubMed: 11242109
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004881
- to stream PubMed, to step Curation: 004881
- to stream PubMed, to step Checkpoint: 004881
- to stream Ncbi, to step Merge: 000569
- to stream Ncbi, to step Curation: 000569
- to stream Ncbi, to step Checkpoint: 000569
- to stream Main, to step Merge: 009D39
- to stream Main, to step Curation: 009943
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.</title><author><name sortKey="Doffinger, R" sort="Doffinger, R" uniqKey="Doffinger R" first="R" last="Döffinger">R. Döffinger</name><affiliation wicri:level="3"><nlm:affiliation>Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Smahi, A" sort="Smahi, A" uniqKey="Smahi A" first="A" last="Smahi">A. Smahi</name></author><author><name sortKey="Bessia, C" sort="Bessia, C" uniqKey="Bessia C" first="C" last="Bessia">C. Bessia</name></author><author><name sortKey="Geissmann, F" sort="Geissmann, F" uniqKey="Geissmann F" first="F" last="Geissmann">F. Geissmann</name></author><author><name sortKey="Feinberg, J" sort="Feinberg, J" uniqKey="Feinberg J" first="J" last="Feinberg">J. Feinberg</name></author><author><name sortKey="Durandy, A" sort="Durandy, A" uniqKey="Durandy A" first="A" last="Durandy">A. Durandy</name></author><author><name sortKey="Bodemer, C" sort="Bodemer, C" uniqKey="Bodemer C" first="C" last="Bodemer">C. Bodemer</name></author><author><name sortKey="Kenwrick, S" sort="Kenwrick, S" uniqKey="Kenwrick S" first="S" last="Kenwrick">S. Kenwrick</name></author><author><name sortKey="Dupuis Girod, S" sort="Dupuis Girod, S" uniqKey="Dupuis Girod S" first="S" last="Dupuis-Girod">S. Dupuis-Girod</name></author><author><name sortKey="Blanche, S" sort="Blanche, S" uniqKey="Blanche S" first="S" last="Blanche">S. Blanche</name></author><author><name sortKey="Wood, P" sort="Wood, P" uniqKey="Wood P" first="P" last="Wood">P. Wood</name></author><author><name sortKey="Rabia, S H" sort="Rabia, S H" uniqKey="Rabia S" first="S H" last="Rabia">S H Rabia</name></author><author><name sortKey="Headon, D J" sort="Headon, D J" uniqKey="Headon D" first="D J" last="Headon">D J Headon</name></author><author><name sortKey="Overbeek, P A" sort="Overbeek, P A" uniqKey="Overbeek P" first="P A" last="Overbeek">P A Overbeek</name></author><author><name sortKey="Le Deist, F" sort="Le Deist, F" uniqKey="Le Deist F" first="F" last="Le Deist">F. Le Deist</name></author><author><name sortKey="Holland, S M" sort="Holland, S M" uniqKey="Holland S" first="S M" last="Holland">S M Holland</name></author><author><name sortKey="Belani, K" sort="Belani, K" uniqKey="Belani K" first="K" last="Belani">K. Belani</name></author><author><name sortKey="Kumararatne, D S" sort="Kumararatne, D S" uniqKey="Kumararatne D" first="D S" last="Kumararatne">D S Kumararatne</name></author><author><name sortKey="Fischer, A" sort="Fischer, A" uniqKey="Fischer A" first="A" last="Fischer">A. Fischer</name></author><author><name sortKey="Shapiro, R" sort="Shapiro, R" uniqKey="Shapiro R" first="R" last="Shapiro">R. Shapiro</name></author><author><name sortKey="Conley, M E" sort="Conley, M E" uniqKey="Conley M" first="M E" last="Conley">M E Conley</name></author><author><name sortKey="Reimund, E" sort="Reimund, E" uniqKey="Reimund E" first="E" last="Reimund">E. Reimund</name></author><author><name sortKey="Kalhoff, H" sort="Kalhoff, H" uniqKey="Kalhoff H" first="H" last="Kalhoff">H. Kalhoff</name></author><author><name sortKey="Abinun, M" sort="Abinun, M" uniqKey="Abinun M" first="M" last="Abinun">M. Abinun</name></author><author><name sortKey="Munnich, A" sort="Munnich, A" uniqKey="Munnich A" first="A" last="Munnich">A. Munnich</name></author><author><name sortKey="Israel, A" sort="Israel, A" uniqKey="Israel A" first="A" last="Israël">A. Israël</name></author><author><name sortKey="Courtois, G" sort="Courtois, G" uniqKey="Courtois G" first="G" last="Courtois">G. Courtois</name></author><author><name sortKey="Casanova, J L" sort="Casanova, J L" uniqKey="Casanova J" first="J L" last="Casanova">J L Casanova</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11242109</idno><idno type="pmid">11242109</idno><idno type="doi">10.1038/85837</idno><idno type="wicri:Area/PubMed/Corpus">004881</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004881</idno><idno type="wicri:Area/PubMed/Curation">004881</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004881</idno><idno type="wicri:Area/PubMed/Checkpoint">004881</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004881</idno><idno type="wicri:Area/Ncbi/Merge">000569</idno><idno type="wicri:Area/Ncbi/Curation">000569</idno><idno type="wicri:Area/Ncbi/Checkpoint">000569</idno><idno type="wicri:doubleKey">1061-4036:2001:Doffinger R:x:linked:anhidrotic</idno><idno type="wicri:Area/Main/Merge">009D39</idno><idno type="wicri:Area/Main/Curation">009943</idno><idno type="wicri:Area/Main/Exploration">009943</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.</title><author><name sortKey="Doffinger, R" sort="Doffinger, R" uniqKey="Doffinger R" first="R" last="Döffinger">R. Döffinger</name><affiliation wicri:level="3"><nlm:affiliation>Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Smahi, A" sort="Smahi, A" uniqKey="Smahi A" first="A" last="Smahi">A. Smahi</name></author><author><name sortKey="Bessia, C" sort="Bessia, C" uniqKey="Bessia C" first="C" last="Bessia">C. Bessia</name></author><author><name sortKey="Geissmann, F" sort="Geissmann, F" uniqKey="Geissmann F" first="F" last="Geissmann">F. Geissmann</name></author><author><name sortKey="Feinberg, J" sort="Feinberg, J" uniqKey="Feinberg J" first="J" last="Feinberg">J. Feinberg</name></author><author><name sortKey="Durandy, A" sort="Durandy, A" uniqKey="Durandy A" first="A" last="Durandy">A. Durandy</name></author><author><name sortKey="Bodemer, C" sort="Bodemer, C" uniqKey="Bodemer C" first="C" last="Bodemer">C. Bodemer</name></author><author><name sortKey="Kenwrick, S" sort="Kenwrick, S" uniqKey="Kenwrick S" first="S" last="Kenwrick">S. Kenwrick</name></author><author><name sortKey="Dupuis Girod, S" sort="Dupuis Girod, S" uniqKey="Dupuis Girod S" first="S" last="Dupuis-Girod">S. Dupuis-Girod</name></author><author><name sortKey="Blanche, S" sort="Blanche, S" uniqKey="Blanche S" first="S" last="Blanche">S. Blanche</name></author><author><name sortKey="Wood, P" sort="Wood, P" uniqKey="Wood P" first="P" last="Wood">P. Wood</name></author><author><name sortKey="Rabia, S H" sort="Rabia, S H" uniqKey="Rabia S" first="S H" last="Rabia">S H Rabia</name></author><author><name sortKey="Headon, D J" sort="Headon, D J" uniqKey="Headon D" first="D J" last="Headon">D J Headon</name></author><author><name sortKey="Overbeek, P A" sort="Overbeek, P A" uniqKey="Overbeek P" first="P A" last="Overbeek">P A Overbeek</name></author><author><name sortKey="Le Deist, F" sort="Le Deist, F" uniqKey="Le Deist F" first="F" last="Le Deist">F. Le Deist</name></author><author><name sortKey="Holland, S M" sort="Holland, S M" uniqKey="Holland S" first="S M" last="Holland">S M Holland</name></author><author><name sortKey="Belani, K" sort="Belani, K" uniqKey="Belani K" first="K" last="Belani">K. Belani</name></author><author><name sortKey="Kumararatne, D S" sort="Kumararatne, D S" uniqKey="Kumararatne D" first="D S" last="Kumararatne">D S Kumararatne</name></author><author><name sortKey="Fischer, A" sort="Fischer, A" uniqKey="Fischer A" first="A" last="Fischer">A. Fischer</name></author><author><name sortKey="Shapiro, R" sort="Shapiro, R" uniqKey="Shapiro R" first="R" last="Shapiro">R. Shapiro</name></author><author><name sortKey="Conley, M E" sort="Conley, M E" uniqKey="Conley M" first="M E" last="Conley">M E Conley</name></author><author><name sortKey="Reimund, E" sort="Reimund, E" uniqKey="Reimund E" first="E" last="Reimund">E. Reimund</name></author><author><name sortKey="Kalhoff, H" sort="Kalhoff, H" uniqKey="Kalhoff H" first="H" last="Kalhoff">H. Kalhoff</name></author><author><name sortKey="Abinun, M" sort="Abinun, M" uniqKey="Abinun M" first="M" last="Abinun">M. Abinun</name></author><author><name sortKey="Munnich, A" sort="Munnich, A" uniqKey="Munnich A" first="A" last="Munnich">A. Munnich</name></author><author><name sortKey="Israel, A" sort="Israel, A" uniqKey="Israel A" first="A" last="Israël">A. Israël</name></author><author><name sortKey="Courtois, G" sort="Courtois, G" uniqKey="Courtois G" first="G" last="Courtois">G. Courtois</name></author><author><name sortKey="Casanova, J L" sort="Casanova, J L" uniqKey="Casanova J" first="J L" last="Casanova">J L Casanova</name></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Codon, Terminator (genetics)</term><term>Ectodermal Dysplasia (genetics)</term><term>Ectodermal Dysplasia (immunology)</term><term>Ectodermal Dysplasia (metabolism)</term><term>Ectodysplasins</term><term>Genetic Linkage</term><term>Humans</term><term>I-kappa B Kinase</term><term>Immunity, Cellular</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Immunologic Deficiency Syndromes (immunology)</term><term>Immunologic Deficiency Syndromes (metabolism)</term><term>Infant</term><term>Male</term><term>Membrane Proteins (metabolism)</term><term>Mutation</term><term>NF-kappa B (metabolism)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (metabolism)</term><term>Signal Transduction</term><term>Syndrome</term><term>X Chromosome (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Chromosome X (génétique)</term><term>Codon stop (génétique)</term><term>Dysplasie ectodermique (génétique)</term><term>Dysplasie ectodermique (immunologie)</term><term>Dysplasie ectodermique (métabolisme)</term><term>Déficits immunitaires (génétique)</term><term>Déficits immunitaires (immunologie)</term><term>Déficits immunitaires (métabolisme)</term><term>Ectodysplasines</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Facteur de transcription NF-kappa B (métabolisme)</term><term>Humains</term><term>I-kappa B Kinase</term><term>Immunité cellulaire</term><term>Liaison génétique</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Protein-Serine-Threonine Kinases (génétique)</term><term>Protein-Serine-Threonine Kinases (métabolisme)</term><term>Protéines membranaires (métabolisme)</term><term>Syndrome</term><term>Transduction du signal</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Terminator</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term><term>X Chromosome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosome X</term><term>Codon stop</term><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term><term>Membrane Proteins</term><term>NF-kappa B</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term><term>Facteur de transcription NF-kappa B</term><term>Protein-Serine-Threonine Kinases</term><term>Protéines membranaires</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Ectodysplasins</term><term>Genetic Linkage</term><term>Humans</term><term>I-kappa B Kinase</term><term>Immunity, Cellular</term><term>Infant</term><term>Male</term><term>Mutation</term><term>Signal Transduction</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Ectodysplasines</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>I-kappa B Kinase</term><term>Immunité cellulaire</term><term>Liaison génétique</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Syndrome</term><term>Transduction du signal</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). Mutations in the coding region of IKBKG are associated with EDA-ID, and stop codon mutations, with OL-EDA-ID. IKBKG encodes NEMO, the regulatory subunit of the IKK (IkappaB kinase) complex, which is essential for NF-kappaB signaling. Germline loss-of-function mutations in IKBKG are lethal in male fetuses. We show that IKBKG mutations causing OL-EDA-ID and EDA-ID impair but do not abolish NF-kappaB signaling. We also show that the ectodysplasin receptor, DL, triggers NF-kappaB through the NEMO protein, indicating that EDA results from impaired NF-kappaB signaling. Finally, we show that abnormal immunity in OL-EDA-ID patients results from impaired cell responses to lipopolysaccharide, interleukin (IL)-1beta, IL-18, TNFalpha and CD154. We thus report for the first time that impaired but not abolished NF-kappaB signaling in humans results in two related syndromes that associate specific developmental and immunological defects.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Abinun, M" sort="Abinun, M" uniqKey="Abinun M" first="M" last="Abinun">M. Abinun</name><name sortKey="Belani, K" sort="Belani, K" uniqKey="Belani K" first="K" last="Belani">K. Belani</name><name sortKey="Bessia, C" sort="Bessia, C" uniqKey="Bessia C" first="C" last="Bessia">C. Bessia</name><name sortKey="Blanche, S" sort="Blanche, S" uniqKey="Blanche S" first="S" last="Blanche">S. Blanche</name><name sortKey="Bodemer, C" sort="Bodemer, C" uniqKey="Bodemer C" first="C" last="Bodemer">C. Bodemer</name><name sortKey="Casanova, J L" sort="Casanova, J L" uniqKey="Casanova J" first="J L" last="Casanova">J L Casanova</name><name sortKey="Conley, M E" sort="Conley, M E" uniqKey="Conley M" first="M E" last="Conley">M E Conley</name><name sortKey="Courtois, G" sort="Courtois, G" uniqKey="Courtois G" first="G" last="Courtois">G. Courtois</name><name sortKey="Dupuis Girod, S" sort="Dupuis Girod, S" uniqKey="Dupuis Girod S" first="S" last="Dupuis-Girod">S. Dupuis-Girod</name><name sortKey="Durandy, A" sort="Durandy, A" uniqKey="Durandy A" first="A" last="Durandy">A. Durandy</name><name sortKey="Feinberg, J" sort="Feinberg, J" uniqKey="Feinberg J" first="J" last="Feinberg">J. Feinberg</name><name sortKey="Fischer, A" sort="Fischer, A" uniqKey="Fischer A" first="A" last="Fischer">A. Fischer</name><name sortKey="Geissmann, F" sort="Geissmann, F" uniqKey="Geissmann F" first="F" last="Geissmann">F. Geissmann</name><name sortKey="Headon, D J" sort="Headon, D J" uniqKey="Headon D" first="D J" last="Headon">D J Headon</name><name sortKey="Holland, S M" sort="Holland, S M" uniqKey="Holland S" first="S M" last="Holland">S M Holland</name><name sortKey="Israel, A" sort="Israel, A" uniqKey="Israel A" first="A" last="Israël">A. Israël</name><name sortKey="Kalhoff, H" sort="Kalhoff, H" uniqKey="Kalhoff H" first="H" last="Kalhoff">H. Kalhoff</name><name sortKey="Kenwrick, S" sort="Kenwrick, S" uniqKey="Kenwrick S" first="S" last="Kenwrick">S. Kenwrick</name><name sortKey="Kumararatne, D S" sort="Kumararatne, D S" uniqKey="Kumararatne D" first="D S" last="Kumararatne">D S Kumararatne</name><name sortKey="Le Deist, F" sort="Le Deist, F" uniqKey="Le Deist F" first="F" last="Le Deist">F. Le Deist</name><name sortKey="Munnich, A" sort="Munnich, A" uniqKey="Munnich A" first="A" last="Munnich">A. Munnich</name><name sortKey="Overbeek, P A" sort="Overbeek, P A" uniqKey="Overbeek P" first="P A" last="Overbeek">P A Overbeek</name><name sortKey="Rabia, S H" sort="Rabia, S H" uniqKey="Rabia S" first="S H" last="Rabia">S H Rabia</name><name sortKey="Reimund, E" sort="Reimund, E" uniqKey="Reimund E" first="E" last="Reimund">E. Reimund</name><name sortKey="Shapiro, R" sort="Shapiro, R" uniqKey="Shapiro R" first="R" last="Shapiro">R. Shapiro</name><name sortKey="Smahi, A" sort="Smahi, A" uniqKey="Smahi A" first="A" last="Smahi">A. Smahi</name><name sortKey="Wood, P" sort="Wood, P" uniqKey="Wood P" first="P" last="Wood">P. Wood</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Doffinger, R" sort="Doffinger, R" uniqKey="Doffinger R" first="R" last="Döffinger">R. Döffinger</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009943 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 009943 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:11242109
|texte= X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:11242109" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |