Novis B H, Gilinsky N H, Wright J P, Price S, Marks I N
Am J Gastroenterol. 1985 Nov;80(11):891-5.
An 18-year follow-up of a young woman who presented at the age of 10 years with a malabsorption syndrome and recurrent chest infections is reported. The serum immunoglobulins, and in particular the IgA, were increased, cell-mediated immunity was impaired but free alpha heavy chains were not detected. A jejunal biopsy showed plasma cell infiltration of the bowel with villous atrophy. Bronchiectasis, recurrent skin infections, and sinusitis were treated with frequent courses of antibiotics and corticosteroids. An initial presumptive diagnosis of cystic fibrosis was excluded by a normal sweat test. Although difficult to classify her exact type of immune deficiency state, the data would appear to conform to the syndrome of cellular immunodeficiency with normal or near normal immunoglobulins and lymphopenia (Nezelof's syndrome).
报告了一名10岁时出现吸收不良综合征和反复胸部感染的年轻女性的18年随访情况。血清免疫球蛋白，尤其是IgA升高，细胞介导的免疫功能受损，但未检测到游离α重链。空肠活检显示肠道有浆细胞浸润和绒毛萎缩。支气管扩张、反复皮肤感染和鼻窦炎通过频繁使用抗生素和皮质类固醇进行治疗。正常的汗液试验排除了最初疑似的囊性纤维化诊断。尽管难以明确她免疫缺陷状态的确切类型，但数据似乎符合免疫球蛋白正常或接近正常且淋巴细胞减少的细胞免疫缺陷综合征（内泽洛夫综合征）。
