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Genetic and Rare Diseases Information Center (GARD)

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X-linked agammaglobulinemia


Other Names for this Disease

  • Agammaglobulinemia, Bruton tyrosine kinase
  • Agammaglobulinemia, BTK
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • BTK-deficiency
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Overview

X-linked agammaglobulinema is a genetic condition that affects the immune system and occurs almost exclusively in males. Affected individuals have very few B cells in the body, which produce antibodies called immunoglobulins that help protect the body against infection. Those with this condition are more susceptible to infections because their body makes very few of these antibodies.This condition is inherited in an X-linked recessive pattern and is caused by mutations in the BTK gene.[1]
Last updated: 4/20/2011

References

  1. X-linked agammaglobulinemia. Genetics Home Reference. September 2008; http://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia. Accessed 4/20/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on X-linked agammaglobulinemia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked agammaglobulinemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Agammaglobulinemia, Bruton tyrosine kinase
  • Agammaglobulinemia, BTK
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • BTK-deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.