immunodeficiency 84

Term ID

DOID:0061054

Synonyms

Definition

A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. https://pubmed.ncbi.nlm.nih.gov/34155405/

References

• MIM:619437

Ontology

Human Disease   ( DOID:0061054 )