Stuart M J, Tomar R H, Miller M L, Davey F R
JAMA. 1978 Mar 6;239(10):939-42.
We studied three children with chronic idiopathic thrombocytopenic purpura (ITP) and their immediate families. All three patients and 10/13 family members manifested at least one immunologic defect, eg, decreased numbers of T lymphocytes (1/3, 5/13), diminished in vitro response to phytohemagglutinin (2/3, 6/13), dysgammaglobulinemia (2/3, 4/13), altered autoantibodies (1/3, 5/13), and decreased serum properdin levels (3/3, 2/13). In addition, one parent and two asymptomatic siblings of two of the propositi had shortened platelet life spans with normal platelet counts. The HLA antigens A3 and B7 were identified in all three families. There also appeared to be an association between a familial haplotype and the immunologic defects. Chronic ITP appears to occur in families with underlying immunologic defects, which are genetically related.
我们研究了三名患有慢性特发性血小板减少性紫癜（ITP）的儿童及其直系亲属。所有三名患者以及13名家庭成员中的10名表现出至少一种免疫缺陷，例如，T淋巴细胞数量减少（3人中的1人，13人中的5人）、对植物血凝素的体外反应减弱（3人中的2人，13人中的6人）、γ球蛋白血症（3人中的2人，13人中的4人）、自身抗体改变（3人中的1人，13人中的5人）以及血清备解素水平降低（3人均出现，13人中的2人）。此外，两名先证者的一名父母和两名无症状的兄弟姐妹血小板寿命缩短，但血小板计数正常。在所有三个家庭中均鉴定出HLA抗原A3和B7。家族单倍型与免疫缺陷之间似乎也存在关联。慢性ITP似乎发生在具有潜在免疫缺陷且与遗传相关的家庭中。
