Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Forbes, Lisa RVogel, Tiphanie PCooper, Megan ACastro-Wagner, JohanaSchussler, EdithWeinacht, Katja GPlant, Ashley SSu, Helen CAllenspach, Eric JSlatter, MaryAbinun, MarioLilic, DesaCunningham-Rundles, CharlotteEckstein, OliveOlbrich, PeterGuillerman, R PaulPatel, Niraj CDemirdag, Yesim YZerbe, ChristaFreeman, Alexandra FHolland, Steven MSzabolcs, PaulGennery, AndrewTorgerson, Troy RMilner, Joshua DLeiding, Jennifer W2023-01-252023-01-252018-08-06http://hdl.handle.net/10668/12815Treatment of the autoimmune and immune-dysregulatory features of patients with STAT1 GOF or STAT3 GOF disease remains challenging. Jakinibs have been used to treat the severe immune-dysregulation in patients with either STAT1 GOF or STAT3 GOF mutations.enAdolescentAdultChildFemaleGain of Function MutationHumansImmunologic Deficiency SyndromesJanus KinasesMaleNitrilesPiperidinesProtein Kinase InhibitorsPyrazolesPyrimidinesPyrrolesSTAT1 Transcription FactorSTAT3 Transcription FactorTreatment OutcomeJakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.research article30092289open access10.1016/j.jaci.2018.07.0201097-6825PMC6322659http://www.jacionline.org/article/S0091674918311278/pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322659/pdf