Ontology highlight
ABSTRACT:
SUBMITTER: Nishimura S
PROVIDER: S-EPMC7846526 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Nishimura Shiho S Kobayashi Yoshiyuki Y Ohnishi Hidenori H Moriya Kunihiko K Tsumura Miyuki M Sakata Sonoko S Mizoguchi Yoko Y Takada Hidetoshi H Kato Zenichiro Z Sancho-Shimizu Vanessa V Picard Capucine C Irani Sarosh R SR Ohara Osamu O Casanova Jean-Laurent JL Puel Anne A Ishikawa Nobutsune N Okada Satoshi S Kobayashi Masao M
Journal of clinical immunology 20201020 1
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 ...[more]