Shiho Nishimura, Yoshiyuki Kobayashi, Hidenori Ohnishi, Kunihiko Moriya, Miyuki Tsumura, Sonoko Sakata, Yoko Mizoguchi, Hidetoshi Takada, Zenichiro Kato, Vanessa Sancho-Shimizu, Capucine Picard, Sarosh R Irani, Osamu Ohara, Jean-Laurent Casanova, Anne Puel, Nobutsune Ishikawa, Satoshi Okada, Masao Kobayashi
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...
October 20, 2020: Journal of Clinical Immunology