Immunodeficiency 20 is an autosomal recessive disorder caused by mutations of the FCGR3A gene which alters cellular immune defense.
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Jawahar S et al. (1996) Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II). |
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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. |
3. |
Grier JT et al. (2012) Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity. |
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Orphanet article Orphanet ID 437552 |
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OMIM.ORG article Omim 615707 |