Genetic diseases associated with an NK cell deficiency

Disease	Gene(s)	NK cell defect	Infectious susceptibility
X-linked SCID	IL2RG	Development	Multiple infections
Autosomal recessive SCID	JAK3	Development	Multiple infections
Autosomal recessive SCID	ADA	Survival	Multiple infections
Bloom syndrome	BLM	Survival	Fungi, bacteria
Fanconi's anemia	FANCA-G	Survival	Multiple infections
Familial erythrophagocytic lymphohistiocytosis	PFP1, UNC13D, STX11, MUNC13-4, MUNC18-2	Function: Cytotoxicity	Herpesviruses
Chediak-Higashi syndrome	LYST	Function: Cytotoxicity	EBV, fungi
Griscelli syndrome	RAB27A	Function: Cytotoxicity	Herpesviruses, bacteria
X-linked lymphoproliferative syndrome	SH2D1A, BIRC4 (XIAP)	Function: Cytotoxicity	EBV
Bare lymphocyte syndrome	TAP1, TAP2	Function: Specific cytotoxicity	Bacteria
Leukocyte-adhesion deficiency	ITGB2	Function: Target binding	Picornaviruses, bacteria, HSV
X-linked hyperimmunoglobulin-I	TNFSF5	Development, function: Cytotoxicity	Enteroviruses, bacteria, pneumocystis
Paroxysmal nocturnal hemoglobinuria	PIGA	Function: Cytotoxicity	Multiple infections
Wiskott-Aldrich syndrome	WASP	Function: Cytotoxicity	Multiple infections
IL-12 receptor beta-1 deficiency	IL12RB1	Function: Cytokine response and production	Mycobacteria, salmonella
Ectodermal dysplasia with immunodeficiency	NEMO	Function: Cytotoxicity	Mycobacteria, bacteria, CMV
Autoimmune lymphoproliferative syndrome with immunodeficiency	CASP8	Function: Activation receptor-induced stimulation	Sinopulmonary bacterial Mucocutaneous herpesviruses
Familial erythrophagocytic lymphohistiocytosis type 3	UNC13D	Function: Cytotoxicity	Herpesviruses
Familial erythrophagocytic lymphohistiocytosis type 4	STX11	Function: Cytotoxicity	Herpesviruses
Hermansky-Pudlak syndrome	AP3B1	Function: Cytotoxicity	Sinopulmonary bacterial Herpesviruses
Papillon-Lefèvre syndrome	CTSC	Function: Cytotoxicity	Periodontitis (herpesvirus)

NK: natural killer; SCID: severe combined immunodeficiency; EBV: Epstein-Barr virus; HSV: herpes simplex virus; CMV: cytomegalovirus.

Graphic 64501 Version 6.0

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Genetic diseases associated with an NK cell deficiency