Term Name: | immunodeficiency 98 |
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Synonyms: | X-linked immunodeficiency 98 with autoinflammation |
Definition: | A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. |
Ontology: | Human Disease [DOID:0061068] ( DOID:0061068 ) |