Cham Bonnie, Bonilla Mary Ann, Winkelstein Jerry
Department of Pediatrics, Cancercare Manitoba, University of Manitoba, Winnipeg, Canada.
Semin Hematol. 2002 Apr;39(2):107-12. doi: 10.1053/shem.2002.31916.
The primary immunodeficiency diseases are a heterogeneous group of more than 75 disorders characterized by intrinsic defects in the functions of the immune system. Many are associated with abnormalities of hematopoiesis as well. This article will review those primary immunodeficiency syndromes in which neutropenia is a prominent finding, including X-linked agammaglobulinemia (XLA), hyper IgM syndrome, common variable immunodeficiency (CVID), IgA deficiency, cartilage-hair hypoplasia (CHH), and reticular dysgenesis, with regards to pathophysiologic findings and treatment.
原发性免疫缺陷病是一组超过75种的异质性疾病，其特征为免疫系统功能存在内在缺陷。许多疾病还与造血异常有关。本文将回顾那些以中性粒细胞减少为突出表现的原发性免疫缺陷综合征，包括X连锁无丙种球蛋白血症（XLA）、高IgM综合征、常见变异型免疫缺陷病（CVID）、IgA缺乏症、软骨毛发发育不全（CHH）和网状发育不全，涉及病理生理学表现和治疗。
