Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).
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染色体 22q11.2 缺失综合征中的幼年类风湿性关节炎样多发性关节炎（DiGeorge 异常/颚心面综合征/圆锥干异常面综合征）。
DOI：
10.1002/art.1780400307
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发表时间：
1997
影响因子：
--
通讯作者：
Keenan,G
中科院分区：
文献类型：
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作者：
Sullivan,KE;McDonald-McGinn,DM;Driscoll,DA;Zmijewski,CM;Ellabban,AS;Reed,L;Emanuel,BS;Zackai,EH;Athreya,BH;Keenan,G
目的：研究多发性关节炎与22q11.2缺失之间的关系。方法：对80例在费城儿童医院接受随访的22q11.2缺失综合征患者进行了关节病或关节炎的检查。对22q11.2缺失综合征和多发性关节炎患者进行实验室免疫功能评估，以确定其免疫缺陷与多发性关节炎的关系。结果22q11.2缺失综合征患者多发性关节炎的患病率明显高于普通人群多关节幼年类风湿性关节炎(JRA)的患病率。所有3名多发性关节炎患者都有T细胞功能受损的证据。结论：染色体22q11.2缺失综合征是一种原发T细胞疾病，可能与JRA样多发性关节炎相关。所有3例多发性关节炎患者都有证据表明，与染色体22q11.2缺失患者相比，这些患者存在更广泛的免疫调节紊乱，这些紊乱可能是多发性关节炎发生的易感因素。
Objective.To investigate the association of polyarthritis and chromosome 22q11.2 deletions.Methods.Eighty patients with chromosome 22q11.2 deletion syndrome followed up at The Children's Hospital of Philadelphia were examined for evidence of arthropathy or arthritis. Patients with chromosome 22q11.2 deletion syndrome and polyarthritis underwent laboratory evaluations of immunologic function to determine the relationship of their immunodeficiency to the polyarthritis.Results.The prevalence of polyarthritis in patients with chromosome 22q11.2 deletion syndrome was markedly increased over the prevalence of polyarticular juvenile rheumatoid arthritis (JRA) in the general population. All 3 patients with polyarthritis had evidence of impaired T cell function. Two of the patients with polyarthritis also had IgA deficiency.Conclusion.The chromosome 22q11.2 deletion syndrome represents a primary T cell disorder which can be associated with a JRA‐like polyarthritis. All 3 patients with polyarthritis had evidence of more extensive immunoregulatory derangements than those typically seen in patients with chromosome 22q11.2 deletion, and these derangements may have predisposed to the development of polyarthritis.