Combined immunodeficiency caused by pathogenic variants in the <i>ZAP70</i> C-terminal SH2 domain.

Mongellaz, Cédric; Vicente, Rita; Noroski, Lenora M; Noraz, Nelly; Courgnaud, Valérie; Chinen, Javier; Faria, Emilia; Zimmermann, Valérie S; Taylor, Naomi

Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.

Mongellaz, Cédric; Vicente, Rita; Noroski, Lenora M; Noraz, Nelly; Courgnaud, Valérie; Chinen, Javier; Faria, Emilia; Zimmermann, Valérie S; Taylor, Naomi.

Afiliação

Mongellaz C; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Vicente R; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Noroski LM; Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Noraz N; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Courgnaud V; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Chinen J; Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Faria E; Immunoallergy Department, Coimbra Hospital and University Centre (CHUC), Coimbra, Portugal.
Zimmermann VS; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.
Taylor N; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.

Front Immunol ; 14: 1155883, 2023.

Article em En | MEDLINE | ID: mdl-37313400

Assuntos

Linfopenia; Doenças da Imunodeficiência Primária; Lactente; Humanos; Domínios de Homologia de src/genética; Proteínas Tirosina Quinases; Arginina; Linfopenia/genética; Proteína-Tirosina Quinase ZAP-70/genética

Palavras-chave

SH2 mutations; Syk; TCR zeta chain; ZAP-70; autoimmunity; inborn errors of immunity (IEI); phosphate binding pocket; primary immunodeficiencies (PID)

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças da Imunodeficiência Primária / Linfopenia Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França

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