Cryan E F, Deasy P F, Buckley R J, Greally J F
Our Lady's Hospital for Sick Children, Dublin, Ireland.
Thymus. 1988;11(3):185-99.
A kindred is described in which neutropenia and low serum immunoglobulin A levels has occurred. The affected members have variable clinical courses which do not appear to relate to the degree of neutropenia. The bone marrows show a maturation delay in granulocyte production, with increased numbers of lymphocytes. In vitro cultures of the bone marrows failed to produce granulocyte colonies. Studies of peripheral blood and bone marrow lymphocyte subpopulations give inconsistent results, although a general increase in T suppressor lymphocytes compared with T helper lymphocytes emerges. A therapeutic trial of corticosteroid and then of lithium carbonate was without effect on one of the patients. The pathogenetic basis for this probably X-linked disorder remains unclear.
本文描述了一个家族，其中出现了中性粒细胞减少症和血清免疫球蛋白A水平降低的情况。受影响的成员有不同的临床病程，这似乎与中性粒细胞减少的程度无关。骨髓显示粒细胞生成成熟延迟，淋巴细胞数量增加。骨髓的体外培养未能产生粒细胞集落。尽管与辅助性T淋巴细胞相比，抑制性T淋巴细胞总体上有所增加，但外周血和骨髓淋巴细胞亚群的研究结果并不一致。对其中一名患者进行的皮质类固醇和随后碳酸锂的治疗试验均无效。这种可能为X连锁的疾病的发病机制仍不清楚。
