Ownby D R, Pizzo S, Blackmon L, Gall S A, Buckley R H
J Pediatr. 1976 Sep;89(3):382-7. doi: 10.1016/s0022-3476(76)80532-x.
The hematologic and histologic features of two, nontwin, male siblings with severe combined immunodeficiency and variable granulocytopenia are compared to the four previously reported cases of reticular dysgenesis. These sibs died at 50 and 3 days of age, respectively, with Pseudomonas sepsis and congenital cytomegalovirus infection, respectively. A maternal uncle has selective IgA deficiency. Cord blood from the second sib contained a normal percentage of E-rosetting lymphocytes; however, these lymphocytes failed to respond to mitogenic stimulation in vitro. Erythrocyte and lymphocyte levels of adenosine deaminase were elevated in the father and the second sib. Serum immunoglobulin concentrations were low in both siblings.
将两名患有严重联合免疫缺陷和可变粒细胞减少症的非双胞胎男性同胞的血液学和组织学特征与先前报道的四例网状发育不全病例进行了比较。这两名同胞分别在50天和3天时死亡，分别死于铜绿假单胞菌败血症和先天性巨细胞病毒感染。一名舅舅患有选择性IgA缺乏症。第二个同胞的脐带血中E花环形成淋巴细胞的百分比正常；然而，这些淋巴细胞在体外对有丝分裂原刺激无反应。父亲和第二个同胞的红细胞和淋巴细胞中的腺苷脱氨酶水平升高。两名同胞的血清免疫球蛋白浓度均较低。
