Metadata | |
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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 | |
Synonyms |
X-linked immunodeficiency 98 with autoinflammation [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance existence starts during some Pediatric onset |