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Metadata
ID DOID:0061068
Name immunodeficiency 98
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/
Xrefs

MIM:301078

Synonyms

X-linked immunodeficiency 98 with autoinflammation [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

existence starts during some Pediatric onset

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