Sams W M, Jorizzo J L, Snyderman R, Jegasothy B V, Ward F E, Weiner M, Wilson J G, Yount W J, Dillard S B
Am J Med. 1979 Dec;67(6):948-59. doi: 10.1016/0002-9343(79)90635-1.
A family consisting of eight members in three generations (age 10 months to 53 years) affected with chronic mucocutaneous candidiasis was studied along with three unaffected relatives. Dermatophytosis, loss of teeth and recurrent viral infections were present in some members. Results of tests for endocrinologic, muscle or liver disease, thymoma, iron deficiency, antitissue antibodies and malabsorption were normal in all patients. Antibody function and levels, B cell counts, serum complement, leukocyte enzymes, chemotaxis, phagocytosis and adherence were normal in all members. Plasma inhibitors to lymphocyte transformation and leukocyte inhibitory factor were not found. No unique HLA haplotype or antigen segregated in this family. Evaluation of cell-mediated immunity revealed total cutaneous anergy in three of eight whereas four of the other five had negative lymphocyte transformation and skin tests to Candida but responded normally to other antigens. Leukocyte inhibitory factor was not produced to Candida antigen in all four patients tested. T cell counts were within normal limits in all. Extensive evaluation of all limbs of the immune system in this family revealed a defect in cell-mediated immunity to Candida that appeared to be inherited as a dominant characteristic.
对一个由三代八名成员（年龄从10个月到53岁）组成的患有慢性黏膜皮肤念珠菌病的家族以及三名未患病的亲属进行了研究。部分成员存在皮肤癣菌病、牙齿脱落和反复病毒感染的情况。所有患者的内分泌、肌肉或肝脏疾病、胸腺瘤、缺铁、抗组织抗体和吸收不良的检测结果均正常。所有成员的抗体功能和水平、B细胞计数、血清补体、白细胞酶、趋化性、吞噬作用和黏附均正常。未发现淋巴细胞转化的血浆抑制剂和白细胞抑制因子。该家族中没有独特的HLA单倍型或抗原分离。对细胞介导免疫的评估显示，八名患者中有三名完全无皮肤反应，而其他五名患者中有四名对念珠菌的淋巴细胞转化和皮肤试验呈阴性，但对其他抗原反应正常。在所有检测的四名患者中，未产生针对念珠菌抗原的白细胞抑制因子。所有患者的T细胞计数均在正常范围内。对该家族免疫系统所有方面的广泛评估显示，对念珠菌的细胞介导免疫存在缺陷，该缺陷似乎作为显性特征遗传。
