Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades’ Experience

• Published in: Journal of clinical immunology Vol. 41; no. 3; pp. 631 - 638
• Main Authors: Benhsaien, Ibtihal, Ailal, Fatima, El Bakkouri, Jalila, Jeddane, Leïla, Ouair, Hind, Admou, Brahim, Bouskraoui, Mohamed, Hbibi, Mohamed, Hida, Mustapha, Amenzoui, Naïma, Jouhadi, Zineb, El Hafidi, Naïma, Rada, Nouredine, Benajiba, Noufissa, Abilkassem, Rachid, Badou, Abdallah, Bousfiha, Ahmed Aziz
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.04.2021; Springer Nature B.V
• Subjects: Alleles; Autografts; Biomarkers; Biomedical and Life Sciences; Biomedicine; Candidiasis; Children; Chronic infection; Consanguinity; Cross-Sectional Studies; Diagnosis; Diagnosis, Differential; Diarrhea; Disease Management; Disease Susceptibility; Epidemiology; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Hematopoietic stem cells; Humans; Immunology; Infectious Diseases; Inheritance Patterns; Internal Medicine; Lymphocytes T; Lymphopenia; Medical Microbiology; Morocco - epidemiology; Original Article; Patients; Phenotype; Phenotypes; Primary immunodeficiencies; Public Health Surveillance; Recurrent infection; Respiratory tract diseases; Severe combined immunodeficiency; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - epidemiology; Severe Combined Immunodeficiency - etiology; Stem cell transplantation; Morocco; epidemiology; Severe combined immunodeficiency; Morocco; immunophenotype
• DOI: 10.1007/s10875-020-00960-x
• ISSN: 0271-9142

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.