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Metadata
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

MIM:301082

Parent Relationships

is_a X-linked recessive disease

is_a T cell and NK cell immunodeficiency

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

existence starts during some Childhood onset

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