Exomes Immunodeficiencies

Inborn errors of immunity (IBD) are a group of more than 500 rare diseases caused by alterations in genes that regulate the immune system. These disorders can lead to severe and recurrent infections, uncontrolled inflammation, and autoimmune diseases at an early age. We are seeking to perform whole-exome analysis and Sanger sequencing validation testing in pediatric patients with suspected IBD. Your collaboration will allow more patients to access an accurate genetic diagnosis, providing an opportunity for targeted treatments and family genetic counseling.