X-linked agammaglobulinemia overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
X-linked agammaglobulinemia (also called X-linked hypogammaglobulinemia, XLA, Bruton type agammaglobulinemia) is a rare X-linked genetic disorder that affects the body's ability to fight infection (origin of the name: A=no, gammaglobulin=Antibody). XLA patients do not generate mature B cells. B cells are part of the immune system and normally manufacture antibodies (also called immunoglobulins) which defends the body from infections (the humoral response). Patients with untreated XLA are prone to develop serious and even fatal infections.[1] Patients typically present in early childhood with recurrent infections, particularly with extracellular, encapsulated bacteria.[2] XLA is an X-linked disorder, and therefore is almost always limited to males. It occurs in a frequency of about 1 in 100,000 male newborns, and has no ethnic predisposition. XLA is treated by infusion of human antibody. Treatment with pooled gamma globulin cannot restore a functional population of B cells, but it is sufficient to reduce the severity and number of infections due to the passive immunity granted by the exogenous antibodies.[2]
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.[2] 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.[3]
References
- ↑ XLA information by St. Jude Children's Hospital
- ↑ 2.0 2.1 2.2 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