RT Generic
T1 Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
A1 Forbes, Lisa R
A1 Vogel, Tiphanie P
A1 Cooper, Megan A
A1 Castro-Wagner, Johana
A1 Schussler, Edith
A1 Weinacht, Katja G
A1 Plant, Ashley S
A1 Su, Helen C
A1 Allenspach, Eric J
A1 Slatter, Mary
A1 Abinun, Mario
A1 Lilic, Desa
A1 Cunningham-Rundles, Charlotte
A1 Eckstein, Olive
A1 Olbrich, Peter
A1 Guillerman, R Paul
A1 Patel, Niraj C
A1 Demirdag, Yesim Y
A1 Zerbe, Christa
A1 Freeman, Alexandra F
A1 Holland, Steven M
A1 Szabolcs, Paul
A1 Gennery, Andrew
A1 Torgerson, Troy R
A1 Milner, Joshua D
A1 Leiding, Jennifer W
K1 Gain of Function Mutation
K1 Immunologic Deficiency Syndromes
K1 Protein Kinase Inhibitors
K1 Treatment Outcome
AB Genetic 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 mellitus
PB Elsevier Inc.
YR 2018
FD 2018-08-06
LK http://hdl.handle.net/10668/12815
UL http://hdl.handle.net/10668/12815
LA en
NO Forbes 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.
DS RISalud
RD Sep 27, 2025