X-linked agammaglobulinaemia. Mutation A1246G (R372G)

MeSH terms

• Agammaglobulinaemia Tyrosine Kinase
• Agammaglobulinemia / complications
• Agammaglobulinemia / diagnosis
• Agammaglobulinemia / drug therapy
• Agammaglobulinemia / genetics
• Agammaglobulinemia / physiopathology
• B-Lymphocytes / immunology
• B-Lymphocytes / metabolism*
• B-Lymphocytes / parasitology
• B-Lymphocytes / pathology
• Bacterial Infections / diagnosis*
• Bacterial Infections / drug therapy
• Bacterial Infections / etiology
• Bacterial Infections / genetics
• Bacterial Infections / physiopathology
• Child, Preschool
• Disease-Free Survival
• Female
• Genetic Carrier Screening
• Genetic Diseases, X-Linked / complications
• Genetic Diseases, X-Linked / diagnosis
• Genetic Diseases, X-Linked / drug therapy
• Genetic Diseases, X-Linked / genetics
• Genetic Diseases, X-Linked / physiopathology
• Giardia / immunology*
• Giardia / pathogenicity
• Giardiasis / diagnosis*
• Giardiasis / drug therapy
• Giardiasis / etiology
• Giardiasis / genetics
• Giardiasis / physiopathology
• Growth and Development / genetics
• Humans
• Immunoglobulins, Intravenous / administration & dosage
• Infant
• Lymphopenia
• Male
• Medical History Taking
• Molecular Diagnostic Techniques
• Mutation / genetics
• Pedigree
• Protein-Tyrosine Kinases / genetics
• Protein-Tyrosine Kinases / immunology
• Protein-Tyrosine Kinases / metabolism*