TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

doi:10.1002/ajh.26452

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Article

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

American journal of hematology - 1 Mar 2022

Fejtkova Martina, Sukova Martina, Hlozkova Katerina, Skvarova Kramarzova Karolina, Rackova Marketa, Jakubec David, Bakardjieva Marina, Bloomfield Marketa, Klocperk Adam, Parackova Zuzana, Sediva Anna, Aluri Jahnavi, Novakova Michaela, Kalina Tomas, Fronkova Eva, Hrusak Ondrej, Malcova Hana, Sedlacek Petr, Liba Zuzana, Kudr Martin, Stary Jan, Cooper Megan A, Svaton Michael, Kanderova Veronika

Abstract excerpt

Our study presents a novel germline c.1715G>T (p.G572V) mutation in the gene encoding Toll-like receptor 8 (TLR8) causing an autoimmune and autoinflammatory disorder in a family with monozygotic male twins, who suffer from severe autoimmune hemolytic anemia worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis, and CNS vasculitis. The pathogenicity of the mutation was...

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PMID: 34981838
DOI: 10.1002/ajh.26452

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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