Table 2.
Monogenic human diseases involving RIPK1
| Gene (protein) | Mutation | Disease/clinical characteristics | Refs |
|---|---|---|---|
| RIPK1 | Biallelic LoF | Combined immunodeficiency and IBD | 44,45 |
| RIPK1 | Heterozygous, autosomal dominant non-cleavable mutants | Autoinflammation characterized by recurrent fevers and lymphadenopathy | 41,42 |
| TNFAIP3 (A20) | Haploinsufficiency | Early-onset systemic inflammation | 50,51,79,201,203 |
| NEMO | X-linked dominant null allele (lethal in males) | Incontinentia pigmenti with skin inflammation, immune deficiency, blindness and mental retardation (female) | 214,215 |
| NEMO | X-linked recessive partial LoF | Anhidrotic ectodermal dysplasia with immunodeficiency (male) | 213 |
| OTULIN | Biallelic hypomorphic mutations | OTULIPENIA or ORAS is characterized by neonatal-onset fevers, skin rashes and neutrophilic dermatitis/panniculitis | 66,68 |
| HOIP | Hypomorphic | Immunodeficiency and multi-organ autoinflammation | 69,70 |
| HOIL1 | Biallelic LoF | Immunodeficiency and multi-organ autoinflammation | 71 |
IBD, inflammatory bowel disease; LoF, loss of function; ORAS, OTULIN-related autoinflammatory syndrome; RIPK1, receptor-interacting serine/threonine-protein kinase 1.