%0 Generic
%A Forbes, Lisa R
%A Vogel, Tiphanie P
%A Cooper, Megan A
%A Castro-Wagner, Johana
%A Schussler, Edith
%A Weinacht, Katja G
%A Plant, Ashley S
%A Su, Helen C
%A Allenspach, Eric J
%A Slatter, Mary
%A Abinun, Mario
%A Lilic, Desa
%A Cunningham-Rundles, Charlotte
%A Eckstein, Olive
%A Olbrich, Peter
%A Guillerman, R Paul
%A Patel, Niraj C
%A Demirdag, Yesim Y
%A Zerbe, Christa
%A Freeman, Alexandra F
%A Holland, Steven M
%A Szabolcs, Paul
%A Gennery, Andrew
%A Torgerson, Troy R
%A Milner, Joshua D
%A Leiding, Jennifer W
%T Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
%D 2018
%U http://hdl.handle.net/10668/12815
%X 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
%K Gain of Function Mutation
%K Immunologic Deficiency Syndromes
%K Protein Kinase Inhibitors
%K Treatment Outcome
%~