Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.
Identifieur interne : 000428 ( PubMed/Corpus ); précédent : 000427; suivant : 000429Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.
Auteurs : Nils Milman ; Claus B. Andersen ; Annette Hansen ; Thomas Van Overeem Hansen ; Finn C. Nielsen ; Hans Fledelius ; Peter Ahrens ; Ole Haagen NielsenSource :
- APMIS : acta pathologica, microbiologica, et immunologica Scandinavica [ 0903-4641 ] ; 2006.
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.
- Adult, Humans, Infliximab, Male, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Syndrome, Twins, Monozygotic.
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-alpha 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.
DOI: 10.1111/j.1600-0463.2006.apm_522.x
PubMed: 17207093
Links to Exploration step
pubmed:17207093Le document en format XML
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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">PubMed</idno><date when="2006">2006</date><idno type="RBID">pubmed:17207093</idno><idno type="pmid">17207093</idno><idno type="doi">10.1111/j.1600-0463.2006.apm_522.x</idno><idno type="wicri:Area/PubMed/Corpus">000428</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000428</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.</title><author><name sortKey="Milman, Nils" sort="Milman, Nils" uniqKey="Milman N" first="Nils" last="Milman">Nils Milman</name><affiliation><nlm:affiliation>Department of Medicine B, Division of Lung Transplantation, Rigshospitalet, University of Copenhagen, Copenhage, Demark. milman@rh.dk</nlm:affiliation></affiliation></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></analytic><series><title level="j">APMIS : acta pathologica, microbiologica, et immunologica Scandinavica</title><idno type="ISSN">0903-4641</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></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="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="genetics" xml:lang="en"><term>Arthritis</term><term>Diseases in Twins</term><term>Exanthema</term><term>Uveitis</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" xml:lang="en"><term>Adult</term><term>Humans</term><term>Infliximab</term><term>Male</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Single Nucleotide</term><term>Syndrome</term><term>Twins, Monozygotic</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-alpha 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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17207093</PMID><DateCompleted><Year>2007</Year><Month>02</Month><Day>13</Day></DateCompleted><DateRevised><Year>2015</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0903-4641</ISSN><JournalIssue CitedMedium="Print"><Volume>114</Volume><Issue>12</Issue><PubDate><Year>2006</Year><Month>Dec</Month></PubDate></JournalIssue><Title>APMIS : acta pathologica, microbiologica, et immunologica Scandinavica</Title><ISOAbbreviation>APMIS</ISOAbbreviation></Journal><ArticleTitle>Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.</ArticleTitle><Pagination><MedlinePgn>912-9</MedlinePgn></Pagination><Abstract><AbstractText>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-alpha 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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Milman</LastName><ForeName>Nils</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Medicine B, Division of Lung Transplantation, Rigshospitalet, University of Copenhagen, Copenhage, Demark. milman@rh.dk</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andersen</LastName><ForeName>Claus B</ForeName><Initials>CB</Initials></Author><Author ValidYN="Y"><LastName>Hansen</LastName><ForeName>Annette</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>van Overeem Hansen</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Nielsen</LastName><ForeName>Finn C</ForeName><Initials>FC</Initials></Author><Author ValidYN="Y"><LastName>Fledelius</LastName><ForeName>Hans</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Ahrens</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Nielsen</LastName><ForeName>Ole Haagen</ForeName><Initials>OH</Initials></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN="Y"><DataBank><DataBankName>OMIM</DataBankName><AccessionNumberList><AccessionNumber>186580</AccessionNumber></AccessionNumberList></DataBank></DataBankList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. 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