P280 Severe combined immunodeficiency in cartilage hair hypoplasia

Cartilage Hair Hypoplasia (CHH) is associated with immune deficiency, which is a leading cause of mortality in these patients. Newborn screening (NBS) utilizing T-cell receptor excision circles (TRECs) is critical for early diagnosis of severe combined immunodeficiency (SCID), enabling prompt treatment and decreased morbidity/mortality.

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