Anaesthesia and Orphan Diseases: Anaesthetic Management of Patient with Dock-8 Syndrome-8 Mutation

Authors: Viscasillas GMJ , Diaz Fuentes MMI , Gutierrez PR and Alvarez N

DOI: 10.23880/accmj-16000195

Volume 6, Issue 2

Abstract

Dedicator of Cytokinesis 8 (Dock 8 Syndrome) Deficiency, described for the first time in 2009, is a rare condition which is caused by loss of function in DOCK8 encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoskeleton, MyD88- dependent Toll-like receptor signalling and the activation of the transcription factor STAT3.

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