Natural killer deficiency

Natural killer cells are large granular lymphocytes capable of killing tumor cells and certain virally infected cells in a manner not restricted by the major histocompatibility complex (MHC). Fc receptor III is encoded by 2 separate genes: one for the neutrophil receptor, or CD16 (FCGR3A), and another for the transmembrane receptor on natural killer cells and macrophages. Neutrophil-Fc receptor III deficiency is due to deletion of the Fc receptor III-1 gene (CD16), while the Fc receptor III-2 gene (CD32) is normally present.

Alternative names

NK cell deficiency

CD16 deficiency

Classification

  • Other well-defined immunodeficiency syndromes? Immunodeficiency with dermatological defects/Cellular immunodeficiency?

Inheritance

Autosomal recessive

OMIM

*146740 Fc fragment of IgG, low affinity IIIa, receptor for; FCGR3A

Cross references

Phenotypically related immunodeficiencies

Incidence

Incidence is not known.