Arulanantham K, Dwyer J M, Genel M
N Engl J Med. 1979 Jan 25;300(4):164-8. doi: 10.1056/NEJM197901253000403.
We studied three children with candidiasis endocrinopathy syndrome, together with their parents and five siblings, to explore the possibility that defective immunoregulation allows autoimmune phenomena to be involved in the pathogenesis of this syndrome. Inheritance of the syndrome appeared to be autosomal recessive. Immunologic abnormalities in this family included hypergammaglobulinemia, selective IgA deficiency, anergy, autoimmune endocrinopathies and active chronic hepatitis. Defective suppressor T-cell function was noted in the two surviving children with clinically apparent disease and in a clinically normal sibling. Analysis of the immunologic abnormalities in the family suggests that defective immunoregulation rather than disordered effector mechanisms may explain the large number of immunologic defects noted. These defects, in turn, may result in the clinical manifestation of the syndrome.
我们研究了三名患念珠菌病内分泌病综合征的儿童及其父母和五名兄弟姐妹，以探究免疫调节缺陷是否会使自身免疫现象参与该综合征的发病机制。该综合征的遗传方式似乎为常染色体隐性遗传。这个家族中的免疫异常包括高球蛋白血症、选择性IgA缺乏、无反应性、自身免疫性内分泌病和活动性慢性肝炎。在两名患有明显临床疾病的存活儿童以及一名临床正常的兄弟姐妹中，发现了抑制性T细胞功能缺陷。对该家族免疫异常的分析表明，免疫调节缺陷而非效应机制紊乱可能解释了所观察到的大量免疫缺陷。反过来，这些缺陷可能导致该综合征的临床表现。
