immunodeficiency 98

Term ID

DOID:0061068

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. https://pubmed.ncbi.nlm.nih.gov/33512449/

References

• MIM:301078

Ontology

Human Disease   ( DOID:0061068 )