About Pediatric congenital athymia

Congenital athymia is an ultra-rare immune disorder characterized by the absence of a functional thymus at birth. This results in severe immunodeficiency due to a lack of mature T cells and increased risk of fatal infections. Affecting about 17 to 24 infants born each year in the United States and associated with complete DiGeorge anomaly (cDGA), CHARGE syndrome, and FOXN1 deficiency, congenital athymia has historically been fatal by 2 years of age.

Patient and Family Support

In 2018, Global Genes, a nonprofit patient advocacy organization for individuals and families fighting rare and genetic diseases, hosted the first pediatric congenital athymia family conference, an event financially supported by Enzyvant.

Watch Highlights from the Conference

For more information about Global Genes, please visit https://globalgenes.org

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