Autoinflammatory Disorders
Gene: TLR8
6 males reported in PMID 33512449, 5 had mosaic variants.
X-linked immunodeficiency-98 with autoinflammation (IMD98) is characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinaemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopaenias, including neutropaenia.Created: 23 Apr 2022, 2:27 a.m. | Last Modified: 23 Apr 2022, 2:27 a.m.
Panel Version: 0.144
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Publications
Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.Created: 7 Jan 2022, 3:43 a.m. | Last Modified: 7 Jan 2022, 3:43 a.m.
Panel Version: 0.127
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Severe autoimmune hemolytic anemia and autoinflammation
Publications
Publications for gene: TLR8 were set to 34981838
Gene: tlr8 has been classified as Green List (High Evidence).
Phenotypes for gene: TLR8 were changed from periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated to Autoinflammatory syndrome MONDO:0019751, TLR8-associated
Gene: tlr8 has been classified as Red List (Low Evidence).
Phenotypes for gene: TLR8 were changed from Severe autoimmune hemolytic anemia and autoinflammation to periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated
Gene: tlr8 has been classified as Red List (Low Evidence).
gene: TLR8 was added gene: TLR8 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature 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 34981838 Phenotypes for gene: TLR8 were set to Severe autoimmune hemolytic anemia and autoinflammation Review for gene: TLR8 was set to AMBER