JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
Fahad Alsohime, Marta Martín-Fernández, Mohamad‐Hani Temsah, Majed Alabdulhafid, Tom Le Voyer, Malak Alghamdi, Xueer Qiu, Najla Alotaibi, Areej Alkahtani, Sofija Buta, Emmanuelle Jouanguy, Ayman Al‐Eyadhy, Conor Gruber, Gamal Hasan, Fahad A. Bashiri, Rabih Halwani, Hamdy H. Hassan, Saleh Al‐Muhsen, Nouf Alkhamis, Zobaida Alsum, Jean‐Laurent Casanova, Jacinta Bustamante, Dusan Bogunovic, Abdullah Alangari
Abstract
. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).
Topics & Concepts
RuxolitinibInterferonExome sequencingCancer researchMedicineInflammationExomeBiologyGeneImmunologyBioinformaticsMutationGeneticsBone marrowMyelofibrosisinterferon and immune responsesInflammasome and immune disordersImmunodeficiency and Autoimmune Disorders