Non-Bruton type autosomal dominant agammaglobulinemia

A chromosomal aberration involving LRRC8 is a cause of non-bruton type agammaglobulinemia. Agammaglobulinemia is an immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells.

Alternative names

LRRC8 deficiency

Classification

  • Deficiencies predominantly affecting antibody production
    • Agammaglobulinemia

Inheritance

Autosomal dominant

OMIM

#601495 Agammaglobulinemia, non-bruton type

*608360 Leucine-rich repeat-containing protein 8; LRRC8

*601495 Agammaglobulinemia, non-Bruton type, autosomal recessive

Incidence

Incidence is not known yet.