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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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 < 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.</description><identifier>ISSN: 0271-9142</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-020-00960-x</identifier><identifier>PMID: 33411152</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>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</subject><ispartof>Journal of clinical immunology, 2021-04, Vol.41 (3), p.631-638</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021</rights><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-a5bdf0316f81c19aa3bd3b5c295dc94aabaf5d12a304336113b0fa656a97a1bf3</citedby><cites>FETCH-LOGICAL-c375t-a5bdf0316f81c19aa3bd3b5c295dc94aabaf5d12a304336113b0fa656a97a1bf3</cites><orcidid>0000-0002-5011-9873</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-020-00960-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-020-00960-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27926,27927,41490,42559,51321</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33411152$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Benhsaien, Ibtihal</creatorcontrib><creatorcontrib>Ailal, Fatima</creatorcontrib><creatorcontrib>El Bakkouri, Jalila</creatorcontrib><creatorcontrib>Jeddane, Leïla</creatorcontrib><creatorcontrib>Ouair, Hind</creatorcontrib><creatorcontrib>Admou, Brahim</creatorcontrib><creatorcontrib>Bouskraoui, Mohamed</creatorcontrib><creatorcontrib>Hbibi, Mohamed</creatorcontrib><creatorcontrib>Hida, Mustapha</creatorcontrib><creatorcontrib>Amenzoui, Naïma</creatorcontrib><creatorcontrib>Jouhadi, Zineb</creatorcontrib><creatorcontrib>El Hafidi, Naïma</creatorcontrib><creatorcontrib>Rada, Nouredine</creatorcontrib><creatorcontrib>Benajiba, Noufissa</creatorcontrib><creatorcontrib>Abilkassem, Rachid</creatorcontrib><creatorcontrib>Badou, Abdallah</creatorcontrib><creatorcontrib>Bousfiha, Ahmed Aziz</creatorcontrib><title>Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades’ Experience</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><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 < 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.</description><subject>Alleles</subject><subject>Autografts</subject><subject>Biomarkers</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Candidiasis</subject><subject>Children</subject><subject>Chronic infection</subject><subject>Consanguinity</subject><subject>Cross-Sectional Studies</subject><subject>Diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Diarrhea</subject><subject>Disease Management</subject><subject>Disease Susceptibility</subject><subject>Epidemiology</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Hematopoietic stem cells</subject><subject>Humans</subject><subject>Immunology</subject><subject>Infectious Diseases</subject><subject>Inheritance Patterns</subject><subject>Internal Medicine</subject><subject>Lymphocytes T</subject><subject>Lymphopenia</subject><subject>Medical Microbiology</subject><subject>Morocco - epidemiology</subject><subject>Original Article</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Primary immunodeficiencies</subject><subject>Public Health Surveillance</subject><subject>Recurrent infection</subject><subject>Respiratory tract diseases</subject><subject>Severe combined immunodeficiency</subject><subject>Severe Combined Immunodeficiency - diagnosis</subject><subject>Severe Combined Immunodeficiency - epidemiology</subject><subject>Severe Combined Immunodeficiency - etiology</subject><subject>Stem cell transplantation</subject><issn>0271-9142</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kc9O3DAQxi3UChbaF-ihstQLlxSPHTtrblX405WoQCo9WxPHYbNK7MVOxHLra_T1-iQNLH-kHjiNNPP7vhnNR8gnYF-BseIoAZsXMmOcZYxpxbLNDpmBLETGpebvyIzxAjINOd8j-ymtGGNCcblL9oTIAUDyGVmVXetbix1FX9NF348-dOHmsXPmcBijSzQ0VCv6I8RgLXpaLtuujs7Tu3ZY0p_l4oReLZ0Pw_3aHdPru0BPnMXapb-__9DTzdrF1nnrPpD3DXbJfXyqB-TX2el1-T27uDxflN8uMisKOWQoq7phAlQzBwsaUVS1qKTlWtZW54gVNrIGjoLlQigAUbEGlVSoC4SqEQfkcOu7juF2dGkwfZus6zr0LozJ8LxQwJXSfEK__Ieuwhj9dN1E6bwANVdioviWsjGkFF1j1rHtMd4bYOYhCbNNwkxJmMckzGYSfX6yHqve1S-S59dPgNgCaRr5Gxdfd79h-w8tdZRn</recordid><startdate>20210401</startdate><enddate>20210401</enddate><creator>Benhsaien, Ibtihal</creator><creator>Ailal, Fatima</creator><creator>El Bakkouri, Jalila</creator><creator>Jeddane, Leïla</creator><creator>Ouair, Hind</creator><creator>Admou, Brahim</creator><creator>Bouskraoui, Mohamed</creator><creator>Hbibi, Mohamed</creator><creator>Hida, Mustapha</creator><creator>Amenzoui, Naïma</creator><creator>Jouhadi, Zineb</creator><creator>El Hafidi, Naïma</creator><creator>Rada, Nouredine</creator><creator>Benajiba, Noufissa</creator><creator>Abilkassem, Rachid</creator><creator>Badou, Abdallah</creator><creator>Bousfiha, Ahmed Aziz</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-5011-9873</orcidid></search><sort><creationdate>20210401</creationdate><title>Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades’ Experience</title><author>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</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 & phenotype</topic><topic>Hematopoietic stem cells</topic><topic>Humans</topic><topic>Immunology</topic><topic>Infectious Diseases</topic><topic>Inheritance Patterns</topic><topic>Internal Medicine</topic><topic>Lymphocytes T</topic><topic>Lymphopenia</topic><topic>Medical Microbiology</topic><topic>Morocco - epidemiology</topic><topic>Original Article</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Primary immunodeficiencies</topic><topic>Public Health Surveillance</topic><topic>Recurrent infection</topic><topic>Respiratory tract diseases</topic><topic>Severe combined immunodeficiency</topic><topic>Severe Combined Immunodeficiency - diagnosis</topic><topic>Severe Combined Immunodeficiency - epidemiology</topic><topic>Severe Combined Immunodeficiency - etiology</topic><topic>Stem cell transplantation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Benhsaien, Ibtihal</creatorcontrib><creatorcontrib>Ailal, Fatima</creatorcontrib><creatorcontrib>El Bakkouri, Jalila</creatorcontrib><creatorcontrib>Jeddane, Leïla</creatorcontrib><creatorcontrib>Ouair, Hind</creatorcontrib><creatorcontrib>Admou, Brahim</creatorcontrib><creatorcontrib>Bouskraoui, Mohamed</creatorcontrib><creatorcontrib>Hbibi, Mohamed</creatorcontrib><creatorcontrib>Hida, Mustapha</creatorcontrib><creatorcontrib>Amenzoui, Naïma</creatorcontrib><creatorcontrib>Jouhadi, Zineb</creatorcontrib><creatorcontrib>El Hafidi, Naïma</creatorcontrib><creatorcontrib>Rada, Nouredine</creatorcontrib><creatorcontrib>Benajiba, Noufissa</creatorcontrib><creatorcontrib>Abilkassem, Rachid</creatorcontrib><creatorcontrib>Badou, Abdallah</creatorcontrib><creatorcontrib>Bousfiha, Ahmed Aziz</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Benhsaien, Ibtihal</au><au>Ailal, Fatima</au><au>El Bakkouri, Jalila</au><au>Jeddane, Leïla</au><au>Ouair, Hind</au><au>Admou, Brahim</au><au>Bouskraoui, Mohamed</au><au>Hbibi, Mohamed</au><au>Hida, Mustapha</au><au>Amenzoui, Naïma</au><au>Jouhadi, Zineb</au><au>El Hafidi, Naïma</au><au>Rada, Nouredine</au><au>Benajiba, Noufissa</au><au>Abilkassem, Rachid</au><au>Badou, Abdallah</au><au>Bousfiha, Ahmed Aziz</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades’ Experience</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2021-04-01</date><risdate>2021</risdate><volume>41</volume><issue>3</issue><spage>631</spage><epage>638</epage><pages>631-638</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><abstract>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.</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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