FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 102 ID (Ontology) DOID:0061072 (Human Disease)
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.
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 Genes
 immunodeficiency 102       1
 for disease ribbon | immunodeficiency 102       1
 model of | immunodeficiency 102       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease___________
primary immunodeficiency disease         |
 |__T cell and NK cell immunodeficiency__|
                                         immunodeficiency 102  1 rec.
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Is a X-linked recessive disease
T cell and NK cell immunodeficiency
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MIM:301082