Immunodeficiency 20

Immunodeficiency 20 is an autosomal recessive disorder caused by mutations of the FCGR3A gene which alters cellular immune defense.

Systematic

Primary immunodeficiency
	Achondroplasia-SCID syndrome
	Autoinflammation, antibody deficiency, and immune dysregulation syndrome
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	Disposition to infections
	IRAK4 deficiency
	Immunodeficiency 20
		FCGR3A
	Immunodeficiency 21
	Immunodeficiency 31A
	Immunodeficiency 31B
	Immunodeficiency 31C
	Immunodeficiency 33
	Immunodeficiency 38
	Immunodeficiency 41
	Immunodeficiency 51
	Immunodeficiency 68
	Immunodeficiency 69
	Immunodeficiency 74, COVID19-related
	Immunodeficiency-centromeric instability-facial anomalies syndrome
	Variable immunodeficiency type 7
	Vasculitis due to ADA2 deficiency
	Wiskott–Aldrich syndrome

References:

1.	Jawahar S et al. (1996) Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).

2.	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.

4.	Orphanet article Orphanet ID 437552

5.	OMIM.ORG article Omim 615707

Update: June 23, 2025

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