Thymus Transplant Awareness
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This page is dedicated to promoting awareness of primary immunodeficiency due to a lack of functional T-cells caused by the absence of a thymus gland and the treatment of this condition by thymus transplantation.
19/03/2024
A very interesting article on the importance of Newborn Screening for patients with congenital athymia (Complete DiGeorge Syndrome).
The information that caught my attention was that the incidence of congenital athymia (after NBS was implemented) is
0.48 per 100,000 births
which is approximately 1 per 208,333
compared to the previous estimate of 1 per 400,000
These children are rare but not as rare as initially thought. This means that many were dying undiagnosed.
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia - Journal of Clinical Immunology Congenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplantation (TT). Athymic patients are increasingly identified through newborn screening (NBS) for severe combined immunodeficiency (SCID). Lack of relatable information resources con...