T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

• Главные авторы: Xavier Rios (Автор), Ivan K. Chinn (Автор), Jordan S. Orange (Автор), Celine I. Hanson (Автор), Nicholas L. Rider (Автор)
• Формат: ‌
• Опубликовано: Frontiers Media S.A., 2017-07-01T00:00:00Z.
• Предметы: article
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Newborn screening for severe combined immunodeficiency has proven successful in identifying infants with T-cell deficiencies before they become severely ill. Additionally, the newborn screen can detect subtle early phenotypes that may become severe later in life. We present the case of siblings with...