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. [ http://www.ncbi.nlm.nih.gov/pubmed/3482625 http://www.ncbi.nlm.nih.gov/pubmed/34920454 http://www.ncbi.nlm.nih.gov/pubmed/34826260 ]
Synonyms: HELIOS deficiency
Term information
rare, nord_rare, clingen