Disease | Gene mutation | NK cell alteration | Viral Infection susceptibility | References |
---|---|---|---|---|
X-linked and Autosomal recessive severe combined immunodeficiency (SCID) | IL2RG/JAK3 | Absent or low NK cells | Multiple infections | |
CD25 deficiency | IL2RA | Low NK cell number | CMV | [152] |
NEMO deficiency | IKBKG | Low NK cell function | CMV | [153] |
IKK2 deficiency | IKBKB | Low NK cell number | CMV | [154] |
CTLA4 deficiency | CTLA4 | Low NK cell function | CMV and EBV | [155] |
Chediak-Higashi syndrome | LYST | Low NK cell function | EBV | [156] |
X-linked lymphoproliferative syndrome type 1 | SH2D1A | Low NK cell function | EBV | [157] |
X-linked lymphoproliferative syndrome type 2 | XIAP | Low NK cell number and function | EBV | [158] |
Non-X-linked lymphoproliferative syndrome | ITK | Low NK cell number and function | EBV | [159] |
Familial hemophagocytic lymphohistiocytosis 2/3/4/5 | PRF1/UNC13D/STX11/STXBP2 | Low NK cell function | Herpesviruses | |
Hermansky-Pudliak syndrome type 2/9 | AP3BP1/BLOC1S6 | Low NK cell function | Herpesviruses | |
Wiskott-Aldrich syndrome | WAS | Low NK cell function | Herpesviruses | [166] |
WIPF1 deficiency | WIPF1 | Low NK cell function | Herpesviruses | [167] |
RASGRP1 deficiency | RASGRP1 | Low NK cell function | Herpesviruses | [168] |
DOCK8 immunodeficiency syndrome | DOCK8 | Low NK cell function | HPV | [169] |
RLTPR deficiency | CARMIL2/RLTPR | Low NK cell function | HPV | [170] |
X-linked hyper IgM | CD40LG | Low NK cell function | Enteroviruses | [171] |