| Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome. | |
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MedLine Citation:
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PMID: 11669177 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Five patients with the 22q11 deletion syndrome (velocardiofacial syndrome) developed chronic inflammatory polyarticular arthritis. These new cases add to 8 previously reported and confirm the association. The arthritis in all cases was moderate to severe, but at least partially responsive to methotrexate and/or corticosteroids, and was clinically indistinguishable from juvenile idiopathic arthritis (JIA). Analysis of the total 13 patients indicates that 2 are rheumatoid factor positive, 6 are antinuclear antibody positive, 5 have subtle T cell deficiencies, and 6 have hypergammaglobulinemia. Of particular interest is the occurrence of IgA deficiency in 4 patients, including 2 from our own series. Although IgA deficiency is seen in both JIA (2-4%) and 22q11 deletion syndrome (2-4%), the prevalence of low IgA in this series (31%) is much greater than expected. This phenomenon and the true association of inflammatory arthritis and a chromosome deletion disorder provides further evidence of important genetic factors in the pathogenesis of JIA. |
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Authors:
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K Davies; E R Stiehm; P Woo; K J Murray |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: The Journal of rheumatology Volume: 28 ISSN: 0315-162X ISO Abbreviation: J. Rheumatol. Publication Date: 2001 Oct |
Date Detail:
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Created Date: 2001-10-23 Completed Date: 2002-03-12 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7501984 Medline TA: J Rheumatol Country: Canada |
Other Details:
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Languages: eng Pagination: 2326-34 Citation Subset: IM |
Affiliation:
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Department of Rheumatology, Great Ormond Street Hospital for Sick Children, London, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Arthritis, Juvenile Rheumatoid / epidemiology, genetics*, immunology Child, Preschool Chromosomes, Human, Pair 22* DiGeorge Syndrome / epidemiology, genetics, immunology Female Gene Deletion* Genetic Predisposition to Disease Haplotypes Humans IgA Deficiency / epidemiology, genetics* Male Prevalence |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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