Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops—Expanding the phenotype of IPEX syndrome

Abstract excerpt

IPEX Syndrome is a well-characterized, however rare, autoimmune condition primarily affecting males presenting with neonatal onset of severe diarrhea, diabetes, dermatitis, and other autoimmune symptoms. The gene responsible for this condition, FOXP3, is important in the function of T-regulatory cells which maintain tolerance to self-antigens and are implicated in many autoimmune conditions. While females who...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Immune Cell Function and Interaction
• Share to Immunodeficiency and Autoimmune Disorders
• Share to Parvovirus B19 Infection Studies