A rare inborn error of zinc metabolism characterised by recurrent infections, hepatosplenomegaly, anaemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous haematomas have also been reported. [from
SNOMEDCT_US]