Table 3.

Monogenic disorders associated with IBD-like pathology

Epithelial barrier defects

Dystrophic EB

Kindler syndrome

X-linked ectodermal dysplasia

ADAM 17 deficiency

Familial diarrhoea

Neutropenia and phagocyte defects

CGD

CSD type 1

Congenital neutropenia

Leukocyte adhesion deficiency

Hyper and autoinflammatory disorders

Mevalonate kinase deficiency

Phospholipase C2 defects

Familial Mediterranean fever

Familial macrophage activation syndrome

X-linked lymphoproliferative syndrome

Hermansky-Pudlak syndrome

Complex defects in T and B cell function (WAS, CVID, SCID)

Defects in regulatory T cells and IL-10 signalling