Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, United States.
Front Immunol. 2022 Sep 8;13:975017. doi: 10.3389/fimmu.2022.975017. eCollection 2022.
Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promyelocyte stage, occurring in the first months of life. Nearly all reported patients with SRP54 mutations had neutropenia without a cyclic pattern and showed a poor or no response to granulocyte colony-stimulating factor (G-CSF) therapy. We report here an 11-year-old female patient with cyclic neutropenia and recurrent heterozygous p.T117del (c.349_351del) in-frame deletion mutation in , who showed remarkable therapeutic response to G-CSF treatment. The diagnosis of cyclic pattern of neutropenia was established by acceptable standards. ELANE gene mutation was excluded by using various genetic approaches. The patient described here also had dolichocolon which has not been described before in association with SCN.
最近在严重先天性中性粒细胞减少症（SCN）患者中描述了信号识别颗粒（SRP）54 基因的常染色体显性突变。SRP54 缺乏导致慢性和严重的中性粒细胞减少症，在早幼粒细胞阶段成熟停滞，发生在生命的头几个月。几乎所有报道的具有 SRP54 突变的患者都有中性粒细胞减少症，没有周期性模式，对粒细胞集落刺激因子（G-CSF）治疗反应不佳或无反应。我们在此报告一例 11 岁女性患者，患有周期性中性粒细胞减少症和反复杂合 p.T117del（c.349_351del）框内缺失突变，对 G-CSF 治疗有显著反应。中性粒细胞减少症的周期性模式诊断是根据可接受的标准建立的。通过各种遗传方法排除了 ELANE 基因突变。这里描述的患者还患有长结肠，这在以前与 SCN 相关的报道中没有描述过。
