STK4 缺失与疣状表皮发育不良样病变：一例报告。

STK4 deficiency and epidermodysplasia verruciformis-like lesions: A case report.

机构信息

Department of Dermatology, Universidad Militar Nueva Granada, Bogota, Colombia.

Department of Pediatric Clinical Immunology, HOMI Fundacion Hospital Pediatrico la Misericordia, Bogota, Colombia.

出版信息

Pediatr Dermatol. 2024 Jan-Feb;41(1):96-99. doi: 10.1111/pde.15400. Epub 2023 Jul 29.

DOI:10.1111/pde.15400

PMID:37515487

Abstract

Serine/threonine kinase 4 deficiency (STK4 or MST1, OMIM:614868) is an autosomal recessive (AR) combined immunodeficiency that can present with skin lesions such as epidermodysplasia verruciformis-like lesions (EVLL). Herein, we describe a 17-year-old male patient born from consanguineous parents presenting with recurrent respiratory infections, verruciform plaques, poikiloderma, chronic benign lymphoproliferation, and Sjögren syndrome with suspected interstitial lymphocytic pneumonia.

摘要

丝氨酸/苏氨酸激酶 4 缺乏症（STK4 或 MST1，OMIM：614868）是一种常染色体隐性（AR）联合免疫缺陷病，可表现为类似疣状表皮发育不良的皮肤损伤（EVLL）。在此，我们描述了一名 17 岁男性患者，其父母为近亲，表现为反复呼吸道感染、疣状斑块、皮肤异色症、慢性良性淋巴增生和干燥综合征，伴有疑似间质性淋巴细胞性肺炎。