NK cell deficiency disorders and syndromes

Disorder	Responsible gene	Deficiency	Infectious susceptibility
cNKD	GATA2 gene MCM4 gene RTEL1 gene IRF8 gene GINS1 gene Others unknown	≤1% CD56+/CD3- cells or NK cells demonstrating abnormal development	CMV, VZV, HSV, HPV
fNKD	FCGR3A gene	NK cytotoxicity	HSV, VZV, EBV
fNKD	Others unknown	NK cytotoxicity, NK cytokine production	EBV, HSV

NK: natural killer; cNKD: classical natural killer cell deficiency; MCM4: minichromosome maintenance complex component 4; RTEL1: regulator of telomere elongation helicase 1; IRF8: interferon regulatory factor 8; GINS1: Go-Ichi-Ni-San-1; CMV: cytomegalovirus; VZV: varicella zoster virus; HSV: herpes simplex virus; HPV: human papilloma virus; fNKD: functional natural killer cell deficiency; FCRG3A: Fc-gamma-RIIIa; EBV: Epstein-Barr virus.

Graphic 50812 Version 7.0

خرید پکیج

NK cell deficiency disorders and syndromes