Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation.

Autor: Alzyoud R; Department of Pediatric Rheumatology, Immunology & Allergy, Queen Rania Children Hospital, Amman, Jordan., Alansari S; Department of Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Maaitah H; Department of Pediatric Rheumatology, Immunology & Allergy, Queen Rania Children Hospital, Amman, Jordan., AlDossari H; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Monies D; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Mayouf SM; Department of Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mayouf@kfshrc.edu.sa.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. mayouf@kfshrc.edu.sa.
Jazyk: angličtina
Zdroj: Current rheumatology reports [Curr Rheumatol Rep] 2021 Jul 03; Vol. 23 (8), pp. 64. Date of Electronic Publication: 2021 Jul 03.
DOI: 10.1007/s11926-021-01026-6
Abstrakt: Purpose of Review: We describe the clinical and genetic findings in four patients from a single family who presented with refractory 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 FOXP3 mutations. 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.
Databáze: MEDLINE
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