Program Details
Immunodeficiency Exomes Campaign
Inborn Errors of Immunity (IEI) are a group of over 500 rare diseases caused by defects in genes that regulate the immune system. These disorders can lead to severe and recurrent infections, uncontrolled inflammation, and autoimmune diseases from an early age.
Accurate molecular diagnosis is essential to identify the genetic cause of these conditions, enabling personalized treatment that improves the quality of life for patients and their families. In Argentina, access to these technologies is limited, delaying the detection and proper management of IEI.
Our project aims to perform whole exome sequencing and Sanger sequencing validation tests in pediatric patients suspected of having IEI. Each test costs between 150 and 200 dollars. Your contribution will help more patients access precise genetic diagnoses, providing opportunities for targeted treatments and family genetic counseling.
Join us and help multiply diagnoses that can change lives!