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白细胞黏附缺陷症 I 型的临床特征。

Clinical profile of leukocyte adhesion deficiency type I.

机构信息

Department of Paediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), KEM Hospital, Parel, Mumbai, India.

出版信息

Indian Pediatr. 2012 Jan;49(1):43-5. doi: 10.1007/s13312-012-0005-9. Epub 2011 May 30.

Abstract

Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited immunodeficiency with defect in the recruitment of leukocyte to the site of inflammation. Patients with severe LAD-I have absent or markedly reduced expression of CD18 and CD11. Here we report clinical profile of 7 cases of LAD-I diagnosed at our center over a period of 3 years. Recurrent skin and mucous membrane infections were the major presenting manifestations. All children had a history of delayed cord separation.

摘要

白细胞黏附缺陷症 I 型(LAD-I)是一种罕见的遗传性免疫缺陷病,其特征为白细胞向炎症部位募集缺陷。严重 LAD-I 患者的 CD18 和 CD11 表达缺失或显著减少。本研究报道了在过去 3 年中,我们中心诊断的 7 例 LAD-I 患者的临床特征。复发性皮肤和黏膜感染是主要的表现形式。所有患儿均有脐带延迟脱落的病史。

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