Immunodeficiency 20 is an autosomal recessive disorder caused by mutations of the FCGR3A gene which alters cellular immune defense.
Jawahar S et al. (1996) Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).[^]
de Vries E et al. (1996) Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.[^]
Grier JT et al. (2012) Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.[^]
Orphanet articleOrphanet ID 437552 [^]
OMIM.ORG articleOmim 615707 [^]