X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Identifieur interne : 004881 ( PubMed/Corpus ); précédent : 004880; suivant : 004882X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Auteurs : R. Döffinger ; 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.
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
Links to Exploration step
pubmed:11242109Le document en format XML
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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></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><nlm:affiliation>Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, Paris, France.</nlm:affiliation></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="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="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" 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></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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">11242109</PMID><DateCreated><Year>2001</Year><Month>03</Month><Day>12</Day></DateCreated><DateCompleted><Year>2001</Year><Month>04</Month><Day>12</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1061-4036</ISSN><JournalIssue CitedMedium="Print"><Volume>27</Volume><Issue>3</Issue><PubDate><Year>2001</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Nature genetics</Title><ISOAbbreviation>Nat. Genet.</ISOAbbreviation></Journal><ArticleTitle>X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.</ArticleTitle><Pagination><MedlinePgn>277-85</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Döffinger</LastName><ForeName>R</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Smahi</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Bessia</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Geissmann</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Feinberg</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Durandy</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Bodemer</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Kenwrick</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Dupuis-Girod</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Blanche</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Rabia</LastName><ForeName>S H</ForeName><Initials>SH</Initials></Author><Author ValidYN="Y"><LastName>Headon</LastName><ForeName>D J</ForeName><Initials>DJ</Initials></Author><Author ValidYN="Y"><LastName>Overbeek</LastName><ForeName>P A</ForeName><Initials>PA</Initials></Author><Author ValidYN="Y"><LastName>Le Deist</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Holland</LastName><ForeName>S M</ForeName><Initials>SM</Initials></Author><Author ValidYN="Y"><LastName>Belani</LastName><ForeName>K</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Kumararatne</LastName><ForeName>D S</ForeName><Initials>DS</Initials></Author><Author ValidYN="Y"><LastName>Fischer</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Shapiro</LastName><ForeName>R</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Conley</LastName><ForeName>M E</ForeName><Initials>ME</Initials></Author><Author ValidYN="Y"><LastName>Reimund</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Kalhoff</LastName><ForeName>H</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Abinun</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Munnich</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Israël</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Courtois</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Casanova</LastName><ForeName>J L</ForeName><Initials>JL</Initials></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>Nat Genet</MedlineTA><NlmUniqueID>9216904</NlmUniqueID><ISSNLinking>1061-4036</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018388">Codon, Terminator</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C506018">EDA protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D053331">Ectodysplasins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008565">Membrane Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016328">NF-kappa B</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.10</RegistryNumber><NameOfSubstance UI="C496559">CHUK protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.10</RegistryNumber><NameOfSubstance UI="D051550">I-kappa B Kinase</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.10</RegistryNumber><NameOfSubstance UI="C496560">IKBKB protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.10</RegistryNumber><NameOfSubstance UI="C496565">IKBKE protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018388" MajorTopicYN="N">Codon, Terminator</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004476" MajorTopicYN="N">Ectodermal Dysplasia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName><QualifierName 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