STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation
STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation
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DOI：
10.1016/j.clim.2015.06.010
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发表时间：
2015-12-01
影响因子：
8.6
通讯作者：
Sanal, Ozden
中科院分区：
文献类型：
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作者：
Halacli, Sevil Oskay;Ayvaz, Deniz Cagdas;Sanal, Ozden
联合免疫缺陷(CIDs)是一组异质性疾病，其特征是T细胞发育和/或功能受损，这些疾病是由不同的遗传缺陷引起的。除了对各种微生物的感染易感性外，患者还可能有淋巴增殖、自身免疫、炎症、过敏和恶性肿瘤。最近，三个小组独立地报道了STK4基因突变导致一种新的常染色体隐性遗传(AR)CID的患者。我们在这里描述了两个兄弟姐妹，在评估一组与DOCK-8缺乏症高度重叠的患者时发现了一种新的STK4突变，DOCK-8缺乏症是AR高免疫球蛋白E综合征的一种形式。患者的临床特征包括自身免疫性细胞减少症、病毒性皮肤(传染性软疣和口周疱疹感染)和细菌感染、轻度甲真菌病、轻度特应性和脂溢性皮炎、淋巴细胞减少症(尤其是CD4淋巴细胞减少症)和间歇性轻度中性粒细胞减少症。确定潜在的缺陷并报告患者是描述每个免疫缺陷的表型谱所必需的。(C)2015 Elsevier Inc.保留所有权利。
Combined immunodeficiencies (CIDs) are heterogeneous group of disorders characterized by abrogated/impaired T cell development and/or functions that resulted from diverse genetic defects. In addition to the susceptibility to infections with various microorganisms, the patients may have lymphoproliferation, autoimmunity, inflammation, allergy and malignancy. Recently, three groups have independently reported patients having mutations in STK4 gene that cause a novel autosomal recessive (AR) CID. We describe here two siblings with a novel STK4 mutation identified during the evaluation of a group of patients with features highly overlapping with those of DOCK-8 deficiency, a form of AR hyperimmunoglobulin E syndrome. The patients' clinical features include autoimmune cytopenias, viral skin (molluscum contagiosum and perioral herpetic infection) and bacterial infections, mild onychomycosis, mild atopic and seborrheic dermatitis, lymphopenia (particularly CD4 lymphopenia), and intermittent mild neutropenia. Determination of the underlying defect and reporting the patients are required for the description of the phenotypic spectrum of each immunodeficiency. (C) 2015 Elsevier Inc. All rights reserved.