Table 2. Genes associated with disorders where early onset IBD is well recognized. Broader function of the genes / pathways are indicated in the first column.
| Function | Gene | Associated conditions | |
|---|---|---|---|
| Epthelial barrierand epithelial response defects | COL7A1 | Dystrophic epidermolysis bullosa | |
| FERMT1 | Kindler syndrome | ||
| IKBKG | X linked ectodermal dysplasia and immunodeficiency | ||
| ADAM17 | ADAM-17 deficiency | ||
| GUCY2C | Familial diarrhoea | ||
| Neutropenia and defects in phagocyte bacterial killing | CYBB, CYBA, NCF1, NCF2, NCF4 | Chronic granulomatous disease | |
| SLC37A4 | Glycogen storage disease type 1b | ||
| G6PC3 | Congenital neutropenia | ||
| ITGB2 | Leucocyte adhesion deficiency 1 | ||
| Hyper – and autoinflammation | MVK | Mevalonate kinase deficiency | |
| PLCG2 | Phospholipase Cγ2 defects | ||
| MEFV | Familial Mediterranean fever | ||
| STXBP2 | Familial haemophagocytic lymphohistiocytosis type 5 | ||
| XIAP | X linked lymphoproliferative syndrome 2 | ||
| SH2D1A | X linked lymphoproliferative syndrome 1 | ||
| HPS1, HPS4, HPS 6 | Hermansky–Pudlak syndrome | ||
| ICOS | Common variable immunodeficiency type 1 | ||
| LRBA | Common variable immunodeficiency type 8 | ||
| BTK, PIK3R1 | Agammaglobulinaemia | ||
| CD40LG, AICDA | Hyper-IgM syndrome | ||
| WAS | Wiskott–Aldrich syndrome | ||
| DCLRE 1C | Omenn syndrome | ||
| DOCK8 | Hyper IgE syndrome | ||
| SKIV2L, TTC37 | Trichohepatoenteric syndrome | ||
| PTEN | PTEN hamartoma tumour syndrome | ||
| Regulatory T cells and immune regulation | FOXP3, IL2RA | X linked immune dysregulation, polyendocrinopathy, enteropathy | |
| IL10RA, IL10RB, IL10 | IL-10 signalling defects | ||
| Defects in intestinal innervation | RET | Hirschsprung's disease |
Modified from Uhlig66.