A NOVEL X-LINKED COMBINED IMMUNODEFICIENCY DISEASE
A NOVEL X-LINKED COMBINED IMMUNODEFICIENCY DISEASE
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DOI：
10.1172/jci114884
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发表时间：
1990-11-01
影响因子：
15.9
通讯作者：
GOLDMAN, AS
中科院分区：
文献类型：
--
作者：
BROOKS, EG;SCHMALSTIEG, FC;GOLDMAN, AS
在美国一个大家庭中的五名在世男性中发现了一种新的X连锁联合免疫缺陷疾病。受影响的男性年龄从2.5岁到34岁不等。最显著的临床异常是淋巴组织稀少；复发性鼻窦炎、中耳炎、支气管炎和肺炎；严重水痘；和慢性乳头瘤病毒感染。主要的免疫学特征是血清免疫球蛋白浓度正常，但免疫原抗体生成受限；B细胞和NK细胞数量正常，但CD4+和CD8+T细胞数量减少，尤其是CD45RA+亚群；血液T细胞对同种异体细胞、有丝分裂原和抗原的增殖反应减弱；有丝分裂原刺激的血淋巴细胞产生IL-2减少。因此，这个家族中受影响的男性在他们的X染色体上携带了一个异常基因，导致了一种与以前报道的疾病不同的联合免疫缺陷。
A novel X-linked combined immunodeficiency disease was found in five living males in an extended family in the United States. The age of the affected males ranged from 2.5 to 34 yr. The most prominent clinical abnormalities were a paucity of lymphoid tissue; recurrent sinusitis, otitis media, bronchitis, and pneumonia; severe varicella; and chronic papillomavirus infections. The principal immunologic features of the disorder were normal concentrations of serum immunoglobulins but restricted formation of IgG antibodies to immunogens; normal numbers of B cells and NK cells but decreased numbers of CD4+ and CD8+ T lymphocytes, particularly the CD45RA+ subpopulations; diminished proliferative responses of blood T cells to allogeneic cells, mitogens and antigens; and decreased production of IL-2 by mitogen stimulated blood lymphocytes. Thus, affected males in this family carry an abnormal gene on their X chromosome that results in a combined immunodeficiency that is distinct from previously reported disorders.