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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: França, Tábata T., Leite, Luiz F. B., Maximo, Tiago A., Lambert, Christiane G., Zurro, Nuria B., Forte, Wilma C. N., Condino-Neto, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945832/
https://ncbi.nlm.nih.gov/pubmed/29780795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00130
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