A Novel <i>de Novo</i> Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases.

França, Tábata T; Leite, Luiz F B; Maximo, Tiago A; Lambert, Christiane G; Zurro, Nuria B; Forte, Wilma C N; Condino-Neto, Antonio

A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases.

França, Tábata T; Leite, Luiz F B; Maximo, Tiago A; Lambert, Christiane G; Zurro, Nuria B; Forte, Wilma C N; Condino-Neto, Antonio.

Afiliación

França TT; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Leite LFB; Immunodeficiency Sector, Department of Pediatrics, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil.
Maximo TA; Immunodeficiency Sector, Department of Pediatrics, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil.
Lambert CG; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Zurro NB; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Forte WCN; Immunology Discipline, Santa Casa de São Paulo School of Medical Sciences, São Paulo, Brazil.
Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.

Front Pediatr ; 6: 130, 2018.

Article en En | MEDLINE | ID: mdl-29780795

Palabras clave

CD40 ligand; X-linked hyper-IgM syndrome; genetic defects; hypomorphic mutation; primary immunodeficiency

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Front Pediatr Año: 2018 Tipo del documento: Article País de afiliación: Brasil

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