USP18 deficiency is not a death sentence anymore! Our article in . Big international effort led by and F Alsohime. Huge thanks Abdullah (King Saudi Uni), , ,
A neonate with a loss-of-function mutation in USP18 and exuberant expression of interferon-stimulated genes was experimentally treated with ruxolitinib, which suppresses interferon signaling.
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency | NEJM
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency | NEJM. Fascinating use of Ruxolitinib in this rare syndrome
JAK Inhibitor Therapy in a Child with Inherited #USP18 Deficiency | ⁦⁩ | impressive example of continuing to investigate #RareDisease with novel approaches & existing therapies in brand new ways || #MPNSM #TypeIInterferonopathy
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency | NEJM: read it!