Clinical Immunology Unit, Infectious Diseases Department, Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco.
Cellular and Molecular Pathology Laboratory, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
J Clin Immunol. 2021 Apr;41(3):631-638. doi: 10.1007/s10875-020-00960-x. Epub 2021 Jan 7.
Severe combined immunodeficiency (SCID) is a heterogeneous group of primary immunodeficiency diseases (PIDs) characterized by a lack of autologous T lymphocytes. This severe PID is rare, but has a higher prevalence in populations with high rates of consanguinity. The epidemiological, clinical, and immunological features of SCIDs in Moroccan patients have never been reported. The aim of this study was to provide a clinical and immunological description of SCID in Morocco and to assess changes in the care of SCID patients over time. This cross-sectional retrospective study included 96 Moroccan patients referred to the national PID reference center at Casablanca Children's Hospital for SCID over two decades, from 1998 to 2019. The case definition for this study was age < 2 years, with a clinical phenotype suggestive of SCID, and lymphopenia, with very low numbers of autologous T cells, according to the IUIS Inborn Errors of Immunity classification. Our sample included 50 male patients, and 66% of the patients were born to consanguineous parents. The median age at onset and diagnosis were 3.3 and 6.5 months, respectively. The clinical manifestations commonly observed in these patients were recurrent respiratory tract infection (82%), chronic diarrhea (69%), oral candidiasis (61%), and failure to thrive (65%). The distribution of SCID phenotypes was as follows: T-B-NK+ in 44.5%, T-B-NK- in 32%, T-B+NK- in 18.5%, and T-B+NK+ in 5%. An Omenn syndrome phenotype was observed in 15 patients. SCID was fatal in 84% in the patients in our cohort, due to the difficulties involved in obtaining urgent access to hematopoietic stem cell transplantation, which, nevertheless, saved 16% of the patients. The autosomal recessive forms of the clinical and immunological phenotypes of SCID, including the T-B-NK+ phenotype in particular, were more frequent than those in Western countries. A marked improvement in the early detection of SCID cases over the last decade was noted. Despite recent progress in SCID diagnosis, additional efforts are required, for genetic confirmation and particularly for HSCT.
严重联合免疫缺陷症（SCID）是一组以自身 T 淋巴细胞缺乏为特征的原发性免疫缺陷病（PID）。这种严重的 PID 较为罕见，但在高近亲结婚率的人群中发病率较高。摩洛哥患者的 SCID 的流行病学、临床和免疫学特征从未有过报道。本研究旨在提供摩洛哥 SCID 的临床和免疫学描述，并评估随着时间的推移 SCID 患者治疗的变化。这项横断面回顾性研究纳入了 1998 年至 2019 年 20 年来因 SCID 被转诊到卡萨布兰卡儿童医院国家 PID 参考中心的 96 名摩洛哥患者。本研究的病例定义为年龄<2 岁，具有 SCID 的临床表型，且淋巴细胞减少，根据 IUIS 先天性免疫缺陷分类，自身 T 细胞数量极低。我们的样本包括 50 名男性患者，其中 66%的患者为近亲结婚所生。发病和诊断的中位年龄分别为 3.3 个月和 6.5 个月。这些患者常见的临床表现为反复呼吸道感染（82%）、慢性腹泻（69%）、口腔念珠菌病（61%）和生长迟缓（65%）。SCID 表型分布如下：T-B-NK+占 44.5%，T-B-NK-占 32%，T-B+NK-占 18.5%，T-B+NK+占 5%。15 例患者出现奥姆门综合征表型。在我们的队列中，84%的患者因难以获得紧急造血干细胞移植而导致 SCID 死亡，但这仍挽救了 16%的患者。SCID 的临床和免疫表型的常染色体隐性形式，包括 T-B-NK+表型，比西方国家更为常见。过去十年中 SCID 病例的早期检测明显改善。尽管 SCID 诊断取得了新的进展，但仍需要进一步努力，包括遗传确认，特别是 HSCT。
