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Genetic diseases associated with an NK cell deficiency

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
ADA Survival
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

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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