Santana Mondragón R, Ramírez Mayans J, Berrón Pérez R, Ridaura Sanz C, López Cervantes G
Bol Med Hosp Infant Mex. 1975 Nov-Dec;32(6):1033-45.
The case of a 3 month old child with severe combined sex linked immunodeficiency is presented. The diagnosis was well doccumented, during his life. The child presented as a case of mucocutaneous moniliasis resistant to treatment. There was a history of similar cases in the family; diagnosis was made at post-mortem in one cousin and death occurred at early age in all kins so affected. Blood marrow transplant was not feasible in our case because histocompatibility was lacking in the kins studied. Three units of transfer factor were given as well as hyperimmune plasma but the child died in respiratory failure. Autopsy demonstrated pulmonary infection by Pneumocystic carinii and generalized citomegalic inclussion virus infection; almost complete absence of immune tissue was also demonstrated.
本文报告了一名3个月大患有严重X连锁联合免疫缺陷的患儿病例。在其生前，诊断记录完备。该患儿表现为对治疗耐药的皮肤黏膜念珠菌病。家族中有类似病例史；一名堂兄弟在尸检时确诊，所有受影响的亲属均在幼年死亡。在我们的病例中，由于所研究的亲属缺乏组织相容性，骨髓移植不可行。给予了三单位转移因子和高效价免疫血浆，但患儿死于呼吸衰竭。尸检显示有卡氏肺孢子虫肺部感染和全身性巨细胞包涵体病毒感染；还显示几乎完全缺乏免疫组织。
