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Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.

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Title: Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.
Authors: Sbruzzi RC; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate program in Molecular and Cellular Biology, Department of Genetics and Molecular Biology - Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Prado MJ; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., Fam B; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate program in Molecular and Cellular Biology, Department of Genetics and Molecular Biology - Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Prolla HA; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Faculty of Medicine, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Hellwig A; Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., Motta Rodrigues G; Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., de-Paris F; Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., Jobim M; Transplant Immunology and Personalized Medicine Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., Artigalás O; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Genomic Medicine Program, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, United States., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris Assistance Publique - Hopitaux de Paris (AP-HP), Paris, France., Vianna FSL; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate program in Molecular and Cellular Biology, Department of Genetics and Molecular Biology - Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.; Laboratory Research Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; National Institute of Population Medical Genetics (INAGEMP), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Source: Frontiers in immunology [Front Immunol] 2024 Nov 13; Vol. 15, pp. 1472957. Date of Electronic Publication: 2024 Nov 13 (Print Publication: 2024).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE
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  Data: Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.
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  Data: <searchLink fieldCode="AU" term="%22Sbruzzi+RC%22">Sbruzzi RC</searchLink>; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate program in Molecular and Cellular Biology, Department of Genetics and Molecular Biology - Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Prado+MJ%22">Prado MJ</searchLink>; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Fam+B%22">Fam B</searchLink>; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate program in Molecular and Cellular Biology, Department of Genetics and Molecular Biology - Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Prolla+HA%22">Prolla HA</searchLink>; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Faculty of Medicine, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Hellwig+A%22">Hellwig A</searchLink>; Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Motta+Rodrigues+G%22">Motta Rodrigues G</searchLink>; Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22de-Paris+F%22">de-Paris F</searchLink>; Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Jobim+M%22">Jobim M</searchLink>; Transplant Immunology and Personalized Medicine Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Artigalás+O%22">Artigalás O</searchLink>; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Genomic Medicine Program, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.<br /><searchLink fieldCode="AU" term="%22Seeleuthner+Y%22">Seeleuthner Y</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, United States.<br /><searchLink fieldCode="AU" term="%22Bustamante+J%22">Bustamante J</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris Assistance Publique - Hopitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Vianna+FSL%22">Vianna FSL</searchLink>; Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate program in Molecular and Cellular Biology, Department of Genetics and Molecular Biology - Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.; Laboratory Research Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; National Institute of Population Medical Genetics (INAGEMP), Porto Alegre, Rio Grande do Sul, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
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