Igβ mutations is involved in a failure of B cell development and can provide valuable insight into the assembly and function of BCR. The majority of patients with the early onset of infection, panhypogammaglobulinemia, reduced or absent B cells (over 85%) are males with mutations in BTK. 5% of patients have defects in the μ H chain, λ5, Igα or BLNK.
Alternative names
CD79bD
Immunoglobulin-associated beta; IGB
Immunoglobulin-associated b29 protein; B29
Classification
- Deficiencies predominantly affecting antibody production
- Agammaglobulinemia
Inheritance
Autosomal recessive
OMIM
*147245 Cd79b antigen; CD79B
Cross references
Phenotypically related immunodeficiencies
IDR factfile for X-linked agammaglobulinemia
IDR factfile for X-linked hypogammaglobulinemia with growth hormone deficiency
IDR factfile for Igα deficiency
Incidence
Incidence is not known.