Article
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Journal of clinical immunology - 1 Jan 2021
Nishimura Shiho, Kobayashi Yoshiyuki, Ohnishi Hidenori, Moriya Kunihiko, Tsumura Miyuki, Sakata Sonoko, Mizoguchi Yoko, Takada Hidetoshi, Kato Zenichiro, Sancho-Shimizu Vanessa, Picard Capucine, Irani Sarosh R, Ohara Osamu, Casanova Jean-Laurent, Puel Anne, Ishikawa Nobutsune, Okada Satoshi, Kobayashi Masao
Abstract excerpt
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...
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