X-linked agammaglobulinemia

Encyclopedia : X : XL : XLI : X-linked agammaglobulinemia

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The primary immune deficiency (PID) disorder X-linked agammaglobulinemia (XLA) is an X-linked, recessive genetic disease characterized by a deficiency in serum gamma globulin and a paucity of mature B cells and plasma cells. XLA is caused by a mutation in Bruton's tyrosine kinase (Btk), a non-receptor kinase that plays a critical role in the B cell receptor (BCR) signaling leading to the maturation of B cells into plasma cells. As this maturation process is a key component to an effective humoral immune response, mutations in Btk are thus manifested in recurrent infections, particularly with encapsulated bacteria.

XLA only manifests in male offspring of female carriers.

Common treatment for the disorder in the U.S. is intravenous immunoglobulin therapy. Clinical trials have been done with gene therapy.

External links

• [International Patient Organisation for Primary Immunodeficiencies]
• [BTKBASE]
• [link]

 

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