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

• Hoofdauteurs: Alejandra Escobar Vasco (Auteur), Larisa Broglie (Auteur), Julie-An Talano (Auteur), John Routes (Auteur), James Verbsky (Auteur), Allison Remiker (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...