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X连锁无丙种球蛋白血症(XLA),是一种严重的人类体液免疫缺陷病,为X连锁隐性遗传。作者使用9种多态X染色体标记,研究了XLA基因在X染色体上的定位。患者来自10个家系,其中66-8家系的5个家庭中,有7名患者。全部患者都是在反复严重感染后被确诊的。诊断依据为:血清免疫球蛋白含量明显降低,外周血象中缺乏B淋巴细胞,淋巴样组织中缺少浆细胞和骨髓中存在前-B细胞。
X-linked non-IgA (XLA) is a severe human humoral immune deficiency disorder that is recessive to the X-linked inheritance. The authors used nine polymorphic X chromosome markers to study the location of the XLA gene on the X chromosome. Patients were from 10 pedigrees, of which 7 out of 5 families of 66-8 pedigrees. All patients were diagnosed after repeated serious infections. The diagnosis is based on the following: serum immunoglobulin levels are significantly reduced; peripheral blood cells lack B lymphocytes; lymphoid tissue is deficient in plasma cells and pre-B cells present in bone marrow.