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Diseases

Genetic and Rare Diseases Information Center (GARD)

Agammaglobulinemia, non-Bruton type


Other Names for this Disease
  • Autosomal agammaglobulinemia
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Overview

Agammaglobulinemia, non-Bruton type is a rare form of agammaglobulinemia, which 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] Agammaglobulinemia, non-Bruton type can be caused by changes (mutations) in many different genes, including IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1, and TCF3. In most cases, it is inherited in an autosomal recessive manner; however, families with autosomal dominant inheritance have been reported.[1] 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.[2][3]
Last updated: 4/14/2016

References

  1. Autosomal agammaglobulinemia. Orphanet. December 2013; http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=33110.
  2. Terry W Chin, MD, PhD. Agammaglobulinemia. Medscape Reference. May 2014; http://emedicine.medscape.com/article/884942-overview.
  3. 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.
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Basic Information

  • The Immune Deficiency Foundation offers an information page on Agammaglobulinemia, non-Bruton type. Please click on the link to access this resource.
  • 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 National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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.
  • 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 Agammaglobulinemia, non-Bruton type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Autosomal agammaglobulinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.