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About Congenital Athymia

Congenital Athymia is an ultra-rare condition in which children are born without a thymus. The “T” in T cell stands for thymus because it is where T cells are selected to fight infections or are destroyed if they have the potential to attack the body instead of invaders. Without a thymus, children with congenital athymia may have profound immunodeficiency, vulnerability to potentially fatal infections, and life-threatening immune dysregulation. Congenital athymia is part of several syndromes, including 22q11.2 Deletion Syndrome, CHARGE Syndrome, and FOXN1 Deficiency.

With only supportive care, children with congenital athymia typically die by age two or three. Congenital athymia is initially detected by T-cell deficiency observed in newborn screening for SCID (severe combined immune deficiency), which is now required in all 50 U.S. states. SCID and congenital athymia are both primary immunodeficiency disorders but they are distinct conditions. The estimated incidence of pediatric congenital athymia in the United States is 17 to 24 live births each year.

Congenital Athymia Videos

Lunch & Learn: Congenital Athymia
Presented by Elena Hsieh, MD on June 22, 2022

Congenital Athymia Education Session with Q&A
Presented by Megan Cooper, MD, Ph.D. on October 1, 2021

Enzyvant CONNECT

Enzyvant CONNECT is a program that helps patients with congenital athymia and their caregiver by providing support throughout the treatment journey. Get started today to meet your personal support team, access educational resources, and get answers to your questions about insurance and other assistance programs.

Learn more about Enzyvant CONNECT

Thymus Donation

Providers and thymus tissue donors can potentially save the lives of individuals who live with Congenital Athymia. Sometimes during pediatric heart surgery, surgeons may need to remove thymus tissue in order to do the surgery. That thymus tissue is normally discarded. This is where you can make a difference!

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IDF Resources

You are not alone! Find support from other members of the primary immunodeficiency (PI) community through various programs including regional Get Connected Groups, our monthly web-based Virtual Caregivers Support Groups, and our one-on-one Peer Support program.

Get Support

Thank you to Sumitomo Pharma America, Inc. for their support of this page: