GATA2 deficiency detected by newborn screening for SCID: A case report

• Автори: Alejandra Escobar Vasco (Автор), Larisa Broglie (Автор), Julie-An Talano (Автор), John Routes (Автор), James Verbsky (Автор), Allison Remiker (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

The early diagnosis and treatment of inborn errors of immunity (IEI) is crucial in reducing the morbidity and mortality due to these disorders. The institution of newborn screening (NBS) for the diagnosis of Severe Combined Immune Deficiency (SCID) has decreased the mortality of this disorder and le...