Steensma D P, Tefferi A, Weiler C R
Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Mayo Clin Proc. 2000 Aug;75(8):853-5. doi: 10.4065/75.8.853.
Chronic mucocutaneous candidiasis is a heterogeneous immunodeficiency syndrome characterized by recurrent candidal infections of the skin, nails, and mucous membranes. The syndrome can be associated with autoimmune conditions, especially endocrine disorders. Typically, inheritance is autosomal recessive, and abnormal T-cell-mediated immunity is thought to be the underlying deficit. We describe a 27-year-old man with chronic mucocutaneous candidiasis inherited in an autosomal dominant fashion, in whom both lymphocyte blastogenesis and delayed-type skin reactivity to Candida antigens were normal. Notable features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism.
慢性黏膜皮肤念珠菌病是一种异质性免疫缺陷综合征，其特征为皮肤、指甲和黏膜反复发生念珠菌感染。该综合征可能与自身免疫性疾病相关，尤其是内分泌紊乱。通常，其遗传方式为常染色体隐性遗传，异常的T细胞介导免疫被认为是潜在缺陷。我们描述了一名27岁患有以常染色体显性方式遗传的慢性黏膜皮肤念珠菌病的男性，其淋巴细胞增殖以及对念珠菌抗原的迟发型皮肤反应均正常。该病例的显著特征包括自身免疫性溶血性贫血、可能的甲状旁腺功能减退和性腺功能减退症。
