[早期发现WHIM综合征。[病例报告]。

Q3 Medicine

Revista alergia Mexico Pub Date : 2023-05-24 DOI:10.29262/ram.v70i1.1211

Ana Paola Macías-Robles, Alberto Tlacuilo-Parra, Adolfo Eduardo Asencio-Gallegos, Beatriz Kazuko de la Herrán-Arita, Saúl O Lugo-Reyes

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引用次数: 0

摘要

背景:WHIM综合征对应于先天和内在免疫的先天性错误，其特征为:疣(疣)、低γ -球蛋白血症、感染和髓鞘增生。病例报告:4岁男性，出生时患有严重中性粒细胞减少症和b细胞淋巴细胞减少症，无严重感染和疣;与WHIM综合征相关的CXCR4 c.1000C>T (p.a g334*)变异的原发性免疫缺陷的面板基因测序研究。结论:出生时严重中性粒细胞减少症的诊断应包括通过基因测序研究寻找先天性免疫缺陷，特别是在无症状或少症状患者中。

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[Early detection of WHIM symdrome. A case report].

Background: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English.

Case report: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome.

Conclusions: The diagnosis of severe neutropenia from birth should include the search for inborn errors of immunity, through genetic sequencing studies, especially in asymptomatic or oligosymptomatic patients.

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来源期刊

Revista alergia Mexico Medicine-Immunology and Allergy

CiteScore

0.70

自引率

0.00%

发文量

审稿时长

16 weeks