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 W2023-01-252023-01-252018-08-06Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, et al. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669.http://hdl.handle.net/10668/12815Genetic variants in proteins involved in cytokine signaling are now recognized as a cause of overwhelming human immune dysregulation. Autosomal dominant gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause a variable clinical phenotype that can include chronic mucocutaneous candidiasis (CMC), susceptibility to dimorphic fungal and invasive viral infections , combined immunodeficiency, autoinflammation, and organ-specific autoimmunity .1,2 STAT3 GOF mutations cause early-onset lymphoproliferation with lymphadenopathy and hepatosplenomegaly and multiorgan autoimmunity , including cytopenias , hepatitis , inflammatory lung disease , enteropathy, hypothyroidism , and diabetes mellitusenGain of Function MutationImmunologic Deficiency SyndromesProtein Kinase InhibitorsTreatment OutcomeAdolescentAdultChildFemaleHumansJanus KinasesMaleNitrilesPiperidinesPyrazolesPyrimidinesPyrrolesSTAT1 Transcription FactorSTAT3 Transcription Factorletter to the Editor30092289Restricted AccessCandidiasisMutaciónVirosisCitocinasEnfermedades pulmonaresDiabetes Mellitus10.1016/j.jaci.2018.07.0201097-6825PMC6322659http://www.jacionline.org/article/S0091674918311278/pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322659/pdf