Term Name: immunodeficiency 98
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 )

Relationships
is a type of: combined T cell and B cell immunodeficiency X-linked recessive disease