Table 1.
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 |