Familial Clustering of Juvenile Psoriatic Arthritis associated with a hemizygous FOXP3 mutation

5^th International Congress on Allergy and Clinical Immunology

May 02, 2022 | Webinar

Raed Alzyoud

Queen Rania Children’s Hospital, Jordan

Posters & Accepted Abstracts: J Immune Disord Ther

Abstract :

Purpose of Review: We describe the clinical and genetic findings in four patients from a single family who presented withrefractory psoriatic arthritis and were hemizygous in the forkhead box protein 3 (FOXP3) gene (c.1222G>A). Recent Findings: We report four siblings with hemizygous mutation in the FOXP3 gene (c.1222G>A) who presented with type 1 diabetes mellitus and psoriatic arthritis poorly responsive to treatment. Our findings expand the phenotype spectrum of F OXP3 mutations. Summary: Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in FOXP3 gene, which lead to early onset of constellation of autoimmune manifestations. This report highlights the influence of immune dysregulation in juvenile arthritis.