P. Brogan

Whole exome sequencing of paediatric patients with Cogan’s syndrome to identify monogenic mimics

Abstract Objectives Cogan’s syndrome (CS) is a rare variable vessel vasculitis, describing sensorineural hearing loss (SNHL), inflammatory ocular disease and vestibular dysfunction. We hypothesized that within paediatric-onset (p)CS, a proportion would have monogenic disease, either autoinflammatory and/or associated w...

Paediatric rheumatology Functional characterisation of a novel homozygous p.Y227C ADA2 variant in a child with deficiency of adenosine deaminase type 2