λ5 surrogate light-chain deficiency

Mutations that impair early B cell development result in profound antibody deficiency, characterized by a paucity of mature B cells and the early onset of recurrent pyogenic infections. Defects in λ5 can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.

Alternative names

Classification

  • Deficiencies predominantly affecting antibody production
    • Agammaglobulinemia

Inheritance

Autosomal recessive