Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes - PubMed (original) (raw)

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL. Liu L, et al. J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4. J Exp Med. 2011. PMID: 21727188 Free PMC article.

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.

Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL. Zhang SY, et al. Immunol Rev. 2008 Dec;226:29-40. doi: 10.1111/j.1600-065X.2008.00698.x. Immunol Rev. 2008. PMID: 19161414 Review.

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.

Chen X, Chen J, Chen R, Mou H, Sun G, Yang L, Jia Y, Zhao Q, Wen W, Zhou L, Ding Y, Tang X, Yang J, An Y, Zhao X. Chen X, et al. J Clin Immunol. 2022 Nov;42(8):1778-1794. doi: 10.1007/s10875-022-01339-w. Epub 2022 Aug 17. J Clin Immunol. 2022. PMID: 35976469