Version 2.0 of IGDD is coming up soon. The updated database will include complex diseases and mitochondrial disorders.

  
    Immune-related Disorders:              

 

X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) ( MIM: 300755) is an inherited immunodeficiency caused by mutation in the Bruton's tyrosine kinase (Btk) gene (chromosome locus  Xq21.33-q22). It leads to failure in development of mature B lymphocytes and a reduced Ig production. Patients typically present in early childhood with recurrent infections. XLA is treated by infusion of human antibody.

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