Wiedemann H P, McGuire J, Dwyer J M, Sabetta J, Gee J B, Smith G J, Loke J
Arch Intern Med. 1984 Feb;144(2):397-9.
Community-acquired Pneumocystis carinii pneumonia developed in a young adult patient with dyskeratosis congenita. His hospitalization ended fatally with disseminated candidiasis. Evaluation during the admission showed evidence of cellular immune dysfunction as indicated by skin test anergy and absent lymphocyte proliferation in an in vitro mixed lymphocyte culture. Treatment with transfer factor failed to reverse the cutaneous anergy or affect the clinical course. Dyskeratosis congenita is a rare multisystem disorder with prominent dermatologic manifestations; bone marrow failure or malignant neoplasm are common fatal outcomes. Immune system abnormalities are not classically considered a part of the disease complex. Serial evaluation of our patient's condition over several years suggests that depressed immune function, especially of the cellular limb, may evolve as a feature of clinical importance in these patients.
一名患有先天性角化不良的年轻成年患者发生了社区获得性卡氏肺孢子虫肺炎。他住院治疗最终因播散性念珠菌病而死亡。入院期间的评估显示存在细胞免疫功能障碍的证据，表现为皮肤试验无反应性以及体外混合淋巴细胞培养中淋巴细胞增殖缺乏。使用转移因子治疗未能逆转皮肤无反应性或影响临床病程。先天性角化不良是一种罕见的多系统疾病，具有突出的皮肤表现；骨髓衰竭或恶性肿瘤是常见的致命结局。免疫系统异常通常不被视为该疾病复合体的一部分。对我们患者数年病情的连续评估表明，免疫功能低下，尤其是细胞免疫功能低下，可能会演变成这些患者临床上的一个重要特征。
