Kasmi Zakaria, Chihi Milouda, Aadam Zahra, Ouair Hind, Drissi Bourhanbour Asmaa, El Bakkouri Jalila, Benhsaien Ibtihal, Bousfiha Ahmed Aziz, Ailal Fatima
Laboratory of Clinical Immunology, Infectiology, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Immunology Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Immunol Res. 2025 Jan 9;73(1):29. doi: 10.1007/s12026-024-09581-7.
Congenital neutropenia (CoN) is a heterogeneous group of inborn errors of immunity (IEI) characterized by recurrent infections and early onset of neutropenia (NP). This study aimed to investigate the demographic and clinical data of children with CoN and idiopathic neutropenia (IN) in Morocco. We performed a retrospective study of patients with CoN and analyzed the clinical and laboratory findings of patients with CoN and IN diagnosed between 1999 and 2018 in a clinical immunology unit of a large pediatric hospital. We identified 88 patients, 51 with IN and 37 with CoN. Fifty-seven percent were males, and 43% were females, ranging from 1 month to 19 years. The median age at onset was 8 months, and the median at diagnosis was 36 months. Consanguinity was observed in 57% of the cases, and a history of recurrent infections in the siblings was found in 27.3%. The most common infectious complications were ear, nose, and throat (ENT) infections, skin and soft tissue infections, and lung infections. Patients with CoN were classified into seven syndromes: 9 with severe congenital neutropenia, 11 with cyclic neutropenia, 6 with glycogen storage disease type 1b, 5 with poikiloderma with neutropenia, 3 with Griscelli syndrome, 2 with Hermansky-Pudlak syndrome type II, and 1 with Cohen syndrome. This study provides a comprehensive overview of CoN and IN in a pediatric cohort from Morocco, representing the country's most considerable single-center investigation of these conditions. Our findings highlight the significant burden of CoN, accounting for 5% of IEI in the Moroccan registry, a proportion higher than in some neighboring countries. The study emphasizes the early onset and severity of bacterial infections in CoN patients, underlining the critical need for timely and accurate diagnosis.
先天性中性粒细胞减少症（CoN）是一组异质性的先天性免疫缺陷病（IEI），其特征为反复感染和中性粒细胞减少症（NP）的早期发作。本研究旨在调查摩洛哥先天性中性粒细胞减少症和特发性中性粒细胞减少症（IN）患儿的人口统计学和临床数据。我们对先天性中性粒细胞减少症患者进行了一项回顾性研究，并分析了1999年至2018年期间在一家大型儿科医院的临床免疫科诊断的先天性中性粒细胞减少症和特发性中性粒细胞减少症患者的临床和实验室检查结果。我们确定了88例患者，其中51例为特发性中性粒细胞减少症，37例为先天性中性粒细胞减少症。57%为男性，43%为女性，年龄范围从1个月至19岁。发病的中位年龄为8个月，诊断时的中位年龄为36个月。57%的病例观察到近亲结婚，27.3%的病例在其兄弟姐妹中有反复感染史。最常见的感染并发症是耳、鼻、喉（ENT）感染、皮肤和软组织感染以及肺部感染。先天性中性粒细胞减少症患者被分为七种综合征：9例为严重先天性中性粒细胞减少症，11例为周期性中性粒细胞减少症，6例为1b型糖原贮积病，5例为伴有中性粒细胞减少症的皮肤异色症，3例为格里斯细胞综合征，2例为II型赫尔曼斯基-普德拉克综合征，1例为科恩综合征。本研究全面概述了摩洛哥儿科队列中的先天性中性粒细胞减少症和特发性中性粒细胞减少症，这是该国对这些病症进行的规模最大的单中心调查。我们的研究结果突出了先天性中性粒细胞减少症的重大负担，在摩洛哥登记册中占先天性免疫缺陷病的5%，这一比例高于一些邻国。该研究强调了先天性中性粒细胞减少症患者细菌感染的早期发作和严重性，突显了及时准确诊断的迫切需求。
