Table 1.
Summary of the genes involved in HS.
| Gene | Encoding protein | Disease | References |
|---|---|---|---|
| APH1B | Aph-1 homolog B | Familial HS | 10 |
| DEFB103 | Defensin Beta 3 (hBD3) | Sporadic HS | 13 |
| DEFB4 | Defensin Beta 2 (hBD2) | Sporadic HS | 13 |
| FGFR2 | Fibroblast Growth Factor Receptor | Sporadic HS + Nevus comedonicus and Syndromic HS | 4,14 |
| GJB2 | Gap Junction Protein Beta 2, Connexin-26 | Sporadic HS + Keratitis-ichthyosis-deafness syndrome and Syndromic HS | 14, 15 |
| IL-12Rb1 | Interleukin-12 Receptor Subunit Beta-1 | Sporadic HS | 16 |
| LPIN2 | Lipin 2 | Sporadic HS | 12 |
| MEFV | MEFV innate immunity regulator | Familial HS and Syndromic HS | 4, 12, 17 |
| MYD88 | Myeloid Differentiation Primary Response Protein MyD88 | Sporadic HS | 18 |
| NCSTN | Nicastrin | Familial HS, Syndromic HS and HS + Dowling-Degos disease | 4, 15, 19, 20 |
| NLRC4 | NLR Family CARD Domain Containing 4 | Syndromic HS | 15 |
| NLRP12 | NLR Family Pyrin Domain Containing 12 | Syndromic HS | 12 |
| NLRP3 | NLR Family Pyrin Domain Containing 3 | Syndromic HS | 12 |
| NOD2 | Nucleotide Binding Oligomerization Domain Containing 2 | Familial HS and Syndromic HS | 12, 15, 17, 19 |
| OCRL1 | Inositol polyphosphate 5-phosphatase | Sporadic HS + Dent disease 2 | 21 |
| OTULIN | OTU Deubiquitinase With Linear Linkage Specificity | Syndromic HS | 15 |
| POFUT1 | Protein O-Fucosyltransferase 1 | Syndromic HS and HS + Dowling-Degos disease | 4, 19, 22 |
| PSEN1 | Presenilin 1 | Familial HS | 9, 23 |
| PSENEN | Presenilin Enhancer Protein 2 | Familial HS, Syndromic HS and HS + Dowling-Degos disease | 9, 19, 24, 25 |
| PSTPIP1 | Proline-Serine-Threonine Phosphatase Interacting Protein 1 | Syndromic HS | 15, 19, 26, 27 |
| TNF | Tumor Necrosis Factor | Sporadic HS | 28 |
| WDR1 | WD Repeat Domain 1 | Syndromic HS | 15 |