Macías-Robles Ana Paola, Tlacuilo-Parra Alberto, Asencio-Gallegos Adolfo Eduardo, de la Herrán-Arita Beatriz Kazuko, Lugo-Reyes Saúl O
Médico adscrito al servicio de Alergia e Inmunología Clínica Pediátrica.
Unidad Médica de Alta Especialidad, Hospital de Pediatría, Centro Médico Nacional de Occidente, Guadalajara, Jalisco, Mexico.
Rev Alerg Mex. 2023 May 24;70(1):47-50. doi: 10.29262/ram.v70i1.1211.
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.
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.
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.
WHIM综合征是一种先天性固有免疫和内在免疫缺陷病，其英文首字母缩写代表疣（Warts）、低丙种球蛋白血症（Hypogammaglobulinemia）、感染（Infections）和髓细胞阻滞（Myelocathexis）。
一名4岁男性，自出生起患有严重中性粒细胞减少症和B细胞淋巴细胞减少症，无严重感染或疣；通过对原发性免疫缺陷进行全基因组测序研究，发现其存在与WHIM综合征相关的CXCR4基因c.1000C>T（p.Arg334*）变异。
对于出生时即患有严重中性粒细胞减少症的患者，应通过基因测序研究排查先天性免疫缺陷病，尤其是对于无症状或症状轻微的患者。
