β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the α_Vβ6 integrin receptor

We read with interest the recent work by Schleier et al 1 demonstrating consequences of impaired α4β7 integrin-dependent gut homing of intestinal macrophages on wound healing, which fits well with own observations we have made in a case of congenital infantile intractable diarrhoea linked to impaired integrin receptors in intestinal epithelia (αVβ6). Specifically, a male dizygotic twin was delivered dystrophic (1715 g) at 36 weeks of gestational...