μ heavy-chain deficiency

Defects in the μ heavy-chain gene are a cause of autosomal recessive agammaglobulinemia. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. An intact membrane-bound μ chain is essential for B-cell development. The recessive form is phenotypically identical to XLA but with possible autosomal origin. The μ heavy-chain gene on chromosome 14 is the most frequent abnormality in patients with agammaglobulinemia and decreased B cells who do not have a defect in BTK.

Alternative names

Immunoglobulin heavy μ chain deficiency

Agammaglobulinemia due to early proB cell deffect

Agammaglobulinemia, autosomal recessive

Classification

  • Deficiencies predominantly affecting antibody production
    • Agammaglobulinemia

Inheritance

Autosomal recessive