Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
X-linked agammaglobulinemia causes
Introduction
Overview
Overview
Causes
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..[1] 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.[2]
References
References
- ↑ X-Linked Agammaglobulinemia Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the Immune Deficiency Foundation
- ↑ Bruton, Ogden C. Agammaglobulinemia
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]