Term Name: | immunodeficiency 102 |
---|---|
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. |
Ontology: | Human Disease [DOID:0061072] ( DOID:0061072 ) |