Associated Papers
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Nishimura S et al.
Journal of Clinical Immunology, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling.
De S et al.
The Journal of Biological Chemistry, 2018
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.
Yamamoto T et al.
Molecular Immunology, 2014
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C et al.
Medicine, 2010
Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients.
McDonald DR et al.
The Journal of Allergy and Clinical Immunology, 2010
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