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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked agammaglobulinemia


Other Names for this Disease
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • XLA
  • Agammaglobulinemia, BTK
  • Agammaglobulinemia, Bruton tyrosine kinase
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea.[1][2][3] X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner.[2][3] Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.[1][2]
Last updated: 4/14/2016

References

  1. Terry W Chin, MD, PhD. Agammaglobulinemia. Medscape Reference. May 2014; http://emedicine.medscape.com/article/884942-overview.
  2. Agammaglobulinemia: X-Linked and Autosomal Recessive. Immune Deficiency Foundation. http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessive/. Accessed 4/14/2016.
  3. X-linked agammaglobulinemia. Genetics Home Reference. February 2015; https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia#definition.
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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. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • XLA
  • Agammaglobulinemia, BTK
  • Agammaglobulinemia, Bruton tyrosine kinase
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.