Defects of intrinsic and innate immunity
Gene: TLR8
TLR signaling pathway deficiency with bacterial susceptibility. Mainly mosaic and gain of function is mechanism of disease
Sources: Expert listCreated: 16 Dec 2024, 6:45 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene: tlr8 has been classified as Green List (High Evidence).
Gene: tlr8 has been classified as Green List (High Evidence).
gene: TLR8 was added gene: TLR8 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TLR8 were set to 33512449; 34981838 Phenotypes for gene: TLR8 were set to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Mode of pathogenicity for gene: TLR8 was set to Other Review for gene: TLR8 was set to GREEN gene: TLR8 was marked as current diagnostic