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

This is just here as a test because I lose it

Term information

Subsets

rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5261

id

MONDO:0800139

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0800139

Term relations