X-linked agammaglobulinemia causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Causes

XLA is caused by a mutation on the X chromosome of a single gene identified in 1993 and known as Bruton's tyrosine kinase, or Btk.. XLA was first characterized by Dr. Ogden Bruton in a ground-breaking research paper published in 1952 describing a boy unable to develop immunities to common childhood diseases and infections. Bruton's paper describes the first known immune deficiency. XLA is classified with other inherited (genetic) defects of the immune system, known as primary immunodeficiency disorders.