Logo


W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
13,707 pages, 4,140,686 edits & 38,691,848 views.

Free unbiased diet, health and wellness info!

Agammaglobulinemia, non-Bruton type

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

Other Names: Autosomal agammaglobulinemia

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).

Cause

Agammaglobulinemia, non-Bruton type can be caused by changes (mutations) in many different genes, including IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1, and TCF3.

Inheritance

In most cases, it is inherited in an autosomal recessive manner; however, families with autosomal dominant inheritance have been reported.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

30%-79% of people have these symptoms

5%-29% of people have these symptoms

Diagnosis

Clinical tests

  • Molecular Genetics Tests
  • Deletion/duplication analysis
  • Sequence analysis of the entire coding region
  • Mutation scanning of the entire coding region
  • Targeted variant analysis

Treatment

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.

NIH genetic and rare disease info

Agammaglobulinemia, non-Bruton type is a rare disease.

Latest research - Agammaglobulinemia, non-Bruton type

PubMed
Clinical trials


 

Agammaglobulinemia, non-Bruton type is part of WikiMD's free ^articles!

^Agammaglobulinemia, non-Bruton type (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available