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Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families

Archive ouverte | Ben-Ali, Meriem | CCSD

International audience. Autosomal recessive agammaglobulinemia (ARA) is a primary immunodeficiency characterized by absent peripheral B cells, severe hypogammaglobulinemia, and absent BTK gene mutations. In ARA, mut...

Diagnostic challenge in a series of eleven patients with hyper IgE syndromes

Archive ouverte | Yaakoubi, Roukaya | CCSD

International audience. Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE leve...

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

Archive ouverte | Aadam, Zahra | CCSD

International audience. X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a pro...

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