Table 1.
Summary of pathogenic NLRP1 GOF mutations described to date
| NLRP1 mutation | Protein domain | Inheritance | Disease | Phenotype | JRRP | References |
| A54T | PYR | AD | MSPC | Palmoplantar keratoacanthomas | No | 42, 43 |
| Conjunctival keratoacanthomas | ||||||
| A66V | PYR | AD | MSPC | Palmoplantar keratoacanthomas | No | 43 |
| Conjunctival keratoacanthomas | ||||||
| M77T | PYR | AD | MSPC | Palmoplantar keratoacanthomas | No | 43 |
| Conjunctival keratoacanthomas | ||||||
| P1214R | FIIND | AD | AIADK | Hepatosplenomegaly with extramedullary hematopoiesis | No | 44 |
| Candidiasis | ||||||
| Vitamin A deficiency | ||||||
| Follicular hyperkeratosis, palmoplantar hyperkeratosis, corneal dyskeratosis | ||||||
| Hemolytic anemia, periodic fever, inflammatory arthritis | ||||||
| Mucocutaneous candidiasis | ||||||
| R726W | N-LRR | AR | AIADK | Follicular hyperkeratosis, palmoplantar wart-like hyperkeratotic lesions | Yes? | 44 |
| Inflammatory arthritis | ||||||
| Uveitis (1 of 2 patients) | ||||||
| Vitamin A deficiency | ||||||
| Respiratory papillomatosis (1 of 2 patients) | ||||||
| F787_R843del | N-LRR | Codominant | FKLC | Lichenoid papules on arms, legs, lower trunk | No | 43 |
| Palmoplantar wart-like hyperkeratotic papules | ||||||
| T755N | N-LRR | AR | JRRP | Recurrent respiratory papillomatosis | Yes | This study |
| Keratosis pilaris on legs and lower trunk | ||||||
| Palmoplantar wart-like hyperkeratotic papules | ||||||
| Atrophoderma vermiculata on cheeks |