Agammaglobulinemia, non-Bruton type
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.
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
- Chronic otitis media(Chronic infections of the middle ear)
- Conjunctivitis(Pink eye)
- Diarrhea(Watery stool)
- Immunodeficiency(Decreased immune function)
- Recurrent respiratory infections(Frequent respiratory infections)
- Recurrent skin infections(Skin infections, recurrent)
- Sinusitis(Sinus inflammation)
- Skin rash
30%-79% of people have these symptoms
5%-29% of people have these symptoms
- Bronchiectasis(Permanent enlargement of the airways of the lungs)
- Cellulitis(Bacterial infection of skin)
- Epicanthus(Eye folds)
- External ear malformation
- Hepatitis(Liver inflammation)
- High palate(Elevated palate)
- Hypertelorism(Wide-set eyes)
- Malabsorption(Intestinal malabsorption)
- Neutropenia(Low blood neutrophil count)
- Sepsis(Infection in blood stream)
- 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