FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 98 ID (Ontology) DOID:0061068 (Human Disease)
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.
Also Known As "X-linked immunodeficiency 98 with autoinflammation"
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 Genes
 immunodeficiency 98       8
 for disease ribbon | immunodeficiency 98       8
 model of | immunodeficiency 98       8
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease___________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 98  8 rec.
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Is a X-linked recessive disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "X-linked immunodeficiency 98 with autoinflammation" EXACT
Secondary IDs
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MIM:301078