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Agammaglobulinemia, non-Bruton type

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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).


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.

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


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 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

Clinical trials


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