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

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

Mutations in the CD40 ligand (CD40L) gene (CD40LG) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or se...

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Main Authors: Tábata T. França (Author), Luiz F. B. Leite (Author), Tiago A. Maximo (Author), Christiane G. Lambert (Author), Nuria B. Zurro (Author), Wilma C. N. Forte (Author), Antonio Condino-Neto (Author)
Format: Book
Published: Frontiers Media S.A., 2018-05-01T00:00:00Z.
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3rd Floor Main Library

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