Article
One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.
Frontiers in immunology - 1 Jan 2021
Körholz Julia, Gabrielyan Anastasia, Sowerby John M, Boschann Felix, Chen Lan-Sun, Paul Diana, Brandt David, Kleymann Janina, Kolditz Martin, Toepfner Nicole, Knöfler Ralf, Jacobsen Eva-Maria, Wolf Christine, Conrad Karsten, Röber Nadja, Lee-Kirsch Min Ae, Smith Kenneth G C, Mundlos Stefan, Berner Reinhard, Dalpke Alexander H, Schuetz Catharina, Rae William
Abstract excerpt
Background: Inborn errors of immunity (IEI) present with a large phenotypic spectrum of disease, which can pose diagnostic and therapeutic challenges. Suppressor of cytokine signaling 1 (SOCS1) is a key negative regulator of cytokine signaling, and has recently been associated with a novel IEI. Of patients described to date, it is apparent that SOCS1 haploinsufficiency has a pleiotropic effect in humans....
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