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

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 i...

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Veröffentlicht in:Journal of clinical immunology 2021-04, Vol.41 (3), p.631-638
Hauptverfasser: 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
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container_title Journal of clinical immunology
container_volume 41
creator 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
description 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
doi_str_mv 10.1007/s10875-020-00960-x
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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 &lt; 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. 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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 &lt; 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. 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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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-a5bdf0316f81c19aa3bd3b5c295dc94aabaf5d12a304336113b0fa656a97a1bf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Alleles</topic><topic>Autografts</topic><topic>Biomarkers</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Candidiasis</topic><topic>Children</topic><topic>Chronic infection</topic><topic>Consanguinity</topic><topic>Cross-Sectional Studies</topic><topic>Diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Diarrhea</topic><topic>Disease Management</topic><topic>Disease Susceptibility</topic><topic>Epidemiology</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Genotype &amp; 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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 &lt; 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.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>33411152</pmid><doi>10.1007/s10875-020-00960-x</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-5011-9873</orcidid></addata></record>
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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
title Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades’ Experience
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