Table 1.

Combined and isolated quantitative NK cells deficiencies

Mode of transmission Disease	Mutated Gene	NK cell number/phenotype	Other immunological abnormalities	Other clinical phenotypes	Infectious susceptibility	Cancer phenotype	References
Autosomal recessive Metabolic T-B-SCID	ADA	Markedly decreased	No T and B cells Hypogranular neutrophils	Autoimmunity Hepatic and renal diseases Neurological abnormalities Skeletal alterations	Multiple life-threatening infections		36
Autosomale recessive Reticular dysgenesis	AK2	Absent	No leukocytes	Deafness	Multiple life-threatening infections		39–41
X-linked T-B+ SCID	IL2RG	Markedly decreased	No T cells		Multiple life-threatening infections		47, 48, 49
Autosomal recessive T-B+ SCID	JAK3	Markedly decreased	No T cells		Multiple life-threatening infections		48, 49, 50
Autosomal recessive Growth hormone insensitivity syndrome	STAT5b	Decreased	Low T cell numbers Treg dysfunction Hyper-gammaglobulinemia	Growth retardation Autoimmunity Allergy	Chronic pulmonary diseases Herpes infections Eczema		51–55
Autosomal dominant Mono-Mac syndrome	GATA-2	Markedly decreased No CD56bright Fewer CD56dim	Few or no monocytes, dendritic cells, B lymphocytes	Autoimmunity Primary lymphedema Pulmonary proteinosis	Papillomavirus infections Herpes infections Non-tuberculous mycobacteria Fungal infections	Myelodysplastic syndrome Leukemia EBV-associated smooth muscle tumors	29, 30, 56–62
Autosomal recessive	MCM4	Markedly decreased Normal CD56bright Fewer CD56dim		Growth retardation Adrenal insufficiency	Herpes infections	EBV lymphoma	31, 63, 64