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تعداد آیتم قابل مشاهده باقیمانده: 4

NK cell deficiency disorders and syndromes

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
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

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