Chronic Demodicosis in Patients with Immune Dysregulation: An Unexpected Infectious Manifestation of Signal Transducer and Activator of Transcription (STAT ) 1 Gain‐of‐Function

2021 ◽  
Author(s):  
Oded Shamriz ◽  
Atar Lev ◽  
Amos J Simon ◽  
Ortal Barel ◽  
Elisheva Javasky ◽  
...  
Keyword(s):  
Immune Dysregulation ◽  
Signal Transducer ◽  
Gain Of Function

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

2018 ◽  
Vol 142 (5) ◽  
pp. 1665-1669 ◽  
Author(s):  
Lisa R. Forbes ◽  
Tiphanie P. Vogel ◽  
Megan A. Cooper ◽  
Johana Castro-Wagner ◽  
Edith Schussler ◽  
...  
Keyword(s):  
Immune Dysregulation ◽  
Signal Transducer ◽  
Gain Of Function ◽  
Stat3 Mutations

scholarly journals Mycobacterial Infections Associated With Signal Transducer and Activator of Transcription (STAT) 1 Gain of Function Mutations

2016 ◽  
Vol 3 (suppl_1) ◽  
Author(s):  
Ofer Zimmerman ◽  
Beatriz Marciano ◽  
Alexandra F. Freeman ◽  
Christa Zerbe ◽  
Gulbu Uzel ◽  
...  
Keyword(s):  
Signal Transducer ◽  
Gain Of Function ◽  
Mycobacterial Infections

scholarly journals Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

2020 ◽  
Vol 145 (3) ◽  
pp. 1017-1021 ◽  
Author(s):  
Jeong Seok Lee ◽  
Yohan An ◽  
Christopher J. Yoon ◽  
Jeong Yeon Kim ◽  
Kyung Hwan Kim ◽  
...  
Keyword(s):  
Somatic Mosaicism ◽  
Immune Dysregulation ◽  
Gain Of Function

scholarly journals Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

2018 ◽  
Vol 141 (6) ◽  
pp. 2142-2155.e5 ◽  
Author(s):  
Alexander Vargas-Hernández ◽  
Emily M. Mace ◽  
Ofer Zimmerman ◽  
Christa S. Zerbe ◽  
Alexandra F. Freeman ◽  
...  
Keyword(s):  
Natural Killer Cell ◽  
Natural Killer ◽  
Killer Cell ◽  
Signal Transducer ◽  
Gain Of Function

scholarly journals Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

2013 ◽  
Vol 131 (6) ◽  
pp. 1611-1623.e3 ◽  
Author(s):  
Gulbu Uzel ◽  
Elizabeth P. Sampaio ◽  
Monica G. Lawrence ◽  
Amy P. Hsu ◽  
Mary Hackett ◽  
...  
Keyword(s):  
Immune Dysregulation ◽  
Wild Type ◽  
Gain Of Function

Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders

2017 ◽  
Vol 29 (6) ◽  
pp. 711-717 ◽  
Author(s):  
Filippo Consonni ◽  
Laura Dotta ◽  
Francesca Todaro ◽  
Donatella Vairo ◽  
Raffaele Badolato
Keyword(s):  
Primary Immunodeficiency ◽  
Signal Transducer ◽  
Gain Of Function
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