X-linked agammaglobulinemia causes: Difference between revisions
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==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.<ref name=IDF/> 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.<ref name= BrutonsPaper>Bruton, Ogden C. [http://pediatrics.aappublications.org/cgi/content/full/102/1/S1/213 ''Agammaglobulinemia'']</ref> | 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..<ref name= IDF>[http://www.immunedisease.com/US/patients/IDF/agamma.html X-Linked Agammaglobulinemia] Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the Immune Deficiency Foundation</ref> 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.<ref name= BrutonsPaper>Bruton, Ogden C. [http://pediatrics.aappublications.org/cgi/content/full/102/1/S1/213 ''Agammaglobulinemia'']</ref> | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 17:43, 21 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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
- ↑ 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