Division of Allergy and Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Pediatr Allergy Immunol. 2011 May;22(3):313-9. doi: 10.1111/j.1399-3038.2010.01136.x. Epub 2011 Feb 1.
Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and cancer predisposition resulting from defective telomere maintenance. The immunologic features of DKC remain under diagnosed and under treated despite the fact that immunodeficiency is a major cause of premature mortality in DKC.
This study undertook a retrospective review of 7 DKC patients diagnosed at the Children's Hospital of Philadelphia. In parallel, we reviewed previously reported immunologic findings in DKC patients.
Immunologic abnormalities (lymphopenia, low B-cell numbers, hypogammaglobulinemia, and decreased T-cell function) were the most frequent laboratory findings at initial presentation, preceding the development of significant anemia or thrombocytopenia. Recurrent sinopulmonary or opportunistic infections were present in 6/7 patients. Infant-onset patients had more severe immunologic and somatic features (particularly severe enteropathy).
In DKC, development of immunologic abnormalities can precede bone marrow failure, highlighting the importance of proper immunodeficiency management to minimize morbidity and premature mortality in this disease.
先天性角化不良（DKC）是一种综合征，其特征为免疫缺陷、骨髓衰竭、躯体异常和癌症易感性，这是由于端粒维持缺陷所致。尽管免疫缺陷是 DKC 患者过早死亡的主要原因，但 DKC 的免疫特征仍然诊断不足且治疗不足。
本研究回顾性分析了在费城儿童医院诊断的 7 例 DKC 患者。同时，我们回顾了先前报道的 DKC 患者的免疫异常情况。
免疫异常（淋巴细胞减少、B 细胞数量减少、低丙种球蛋白血症和 T 细胞功能下降）是最初表现时最常见的实验室发现，早于明显贫血或血小板减少的发生。6/7 例患者存在复发性鼻窦或机会性感染。婴儿发病的患者有更严重的免疫和躯体特征（特别是严重的肠病）。
在 DKC 中，免疫异常的发展可能先于骨髓衰竭，这突出了适当的免疫缺陷管理的重要性，以最大限度地减少该疾病的发病率和过早死亡率。
