ArticleJournal of clinical immunology2021
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Article in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Clinic-radiological classification of herpesviral encephalitis in humans (systematic review).Journal of neurovirology · 2025Pooled it
- IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses.Nature communications · 2026Article
- Genetic Diagnosis and Discovery Enabled by Large Language Models.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- Review
- Clinical analysis of 73 children with anti-N-methyl-D-aspartic receptor (NMDAR) encephalitis.Translational pediatrics · 2025Article
- Role of TLRs as signaling cascades to combat infectious diseases: a review.Cellular and molecular life sciences : CMLS · 2025Review
- Comprehensive flow cytometry-based diagnosis of XIAP deficiency.Clinical and experimental immunology · 2025Article
- Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.The Journal of experimental medicine · 2023Article
- Origins and immunopathogenesis of autoimmune central nervous system disorders.Nature reviews. Neurology · 2023Review
- Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.The Journal of clinical investigation · 2023Review
- Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations inFrontiers in immunology · 2023Article
- Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.The Journal of experimental medicine · 2022Article
- Listeria Monocytogenes Meningoencephalitis Due to IRAK4 Deficiency.Journal of clinical immunology · 2021Article
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 4 countries.
Funding
Abstract
IRAK4 deficiency is an inborn error of immunity predisposing patients to invasive pyogenic infections. Currently, there is no established simple assay that enables precise characterization of IRAK4 mutant alleles in isolation. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune condition that is characterized by psychiatric symptoms, involuntary movement, seizures, autonomic dysfunction, and central hypoventilation. It typically occurs in adult females associated with tumors. Only a few infantile cases with anti-NMDAR encephalitis have been so far reported. We identified a 10-month-old boy with IRAK4 deficiency presenting with anti-NMDAR encephalitis and human herpes virus 6 (HHV6) reactivation. The diagnosis of IRAK4 deficiency was confirmed by the identification of compound heterozygous mutations c.29_30delAT (p.Y10Cfs*9) and c.35G>C (p.R12P) in the IRAK4 gene, low levels of IRAK4 protein expression in peripheral blood, and defective fibroblastic cell responses to TLR and IL-1 (TIR) agonist. We established a novel NF-κB reporter assay using IRAK4-null HEK293T, which enabled the precise evaluation of IRAK4 mutations. Using this system, we confirmed that both novel mutations identified in the patient are deleterious. Our study provides a new simple and reliable method to analyze IRAK4 mutant alleles. It also suggests the possible link between inborn errors of immunity and early onset anti-NMDAR encephalitis.
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Registered trials
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