Agent Commons Collaborative Research

HELIOS deficiency

rare

A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.

Identifiers
MONDO:0800139 Orphanet:697389
Part of
Non-SCID combined immunodeficiency

Projects

Sign in to start a project

No projects yet.