A de novo dominant-negative OTULIN variant is associated with OTULIN Related Autoinflammatory Syndrome.
Takeda Y., Ueki M., Matsuhiro J., Walinda E., Tanaka T., Yamada M., Fujita H., Takezaki S., Kobayashi I., Tamaki S., Nagata S., Miyake N., Matsumoto N., Osawa M., Yasumi T., Heike T., Ohtake F., Saito M. K., Toguchida J., Takita J., Ariga T., and Iwai K.
J. Exp. Med.
221(6):e20231941 (2024)
DOI
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H., Manthiramm K., Chavan P.P., Rieser E., Veli Ö., Kaya Ö., Rauch C., Nakabo S., Kuehn H.S., Swart M., Wang Y., Çelik N.I., Molitor A., Ziaee V., Movahedi N., Shahrooei M., Parvaneh N., Alipour-Olyei N., Carapito R., Xu Q., Preite S., Beck D.B., Chae J.J., Nehrebecky M., Ombrello A.K., Hoffmann P., Romeo T., Deuitch N.T., Matthíasardóttir B., Mullikin J., Komarow H., Stoddard J., Niemela J., Dobbs K., Sweeney C.L., Anderton H., Lawlor K.E., Yoshitomi H., Yang D., Boehm M., Davis J., Mudd P., Randazzo D., Tsai W.L., Gadina M., Kaplan M.J., Toguchida J., Mayer C.T., Rosenzweig S.D., Notarangelo L.D., Iwai K., Silke J., Schwartzberg P.L., Boisson B., Casanova J.L., Bahram S., Rao A.P., Peltzer N., Walczak H., Lalaoui N., Aksentijevich I., and Kastner D.L.
Nat. Immunol.
2024, Apr 12
DOI
HOIL-1L deficiency induces cell cycle alteration which causes immaturity of skeletal muscle and cardiomyocytes
Akagi K, Baba S, Fujita H, Fuseya Y, Yoshinaga D, Kubota H, Kume E, Fukumura F, Matsuda K, Tanaka T, Hirata T, Saito M, Iwai K, Takita J
scientific reports
2024 Apr 17;14(1):8871.
DOI
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