Metadata | |
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ID | DOID:0061072 |
Name | immunodeficiency 102 |
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/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance existence starts during some Childhood onset |