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患者 GATA2 缺陷症伴发全身性疣状病。

Generalized verrucosis in a patient with GATA2 deficiency.

机构信息

Department of Dermatology, Columbia University Medical Center, 161 Fort Washington Avenue 12th Floor, New York, NY, 10032, U.S.A.

出版信息

Br J Dermatol. 2014 May;170(5):1182-6. doi: 10.1111/bjd.12794.

Abstract

Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.

摘要

全身性疣状病是几种遗传和免疫缺陷疾病的特征,包括疣状表皮发育不良;WHIM 综合征(疣、低丙种球蛋白血症、感染和骨髓衰竭);WILD 综合征(疣、免疫缺陷、淋巴水肿和生殖器肛门发育不良);严重联合免疫缺陷和 HIV 等。近年来,在 GATA2 缺陷患者中,人们一致认识到全身性疣状病,这是一种新型免疫缺陷综合征,其特征为单核细胞减少症、B 细胞和自然杀伤细胞淋巴细胞减少症,以及发展为髓性白血病和播散性分枝杆菌、人乳头瘤病毒(HPV)和机会性真菌感染的倾向。GATA2 基因突变导致单倍体不足,并以常染色体显性遗传免疫缺陷的形式在家族中遗传。GATA2 是一种参与早期造血分化以及淋巴和血管发育的转录因子。我们描述了一例 GATA2 缺陷的年轻男性患者出现的全身性疣状病伴 HPV 57 型感染。GATA2 缺陷是一种新型显性免疫缺陷,通常在生命后期才被认识到,应在全身性疣状病患者的鉴别诊断中考虑。

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