immunodeficiency 102

Term ID

DOID:0061072

Synonyms

Definition

A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/33876203/

References

• MIM:301082

Ontology

Human Disease   ( DOID:0061072 )