NEWBORN T-CELL RECOMBINATION EXCISION CIRCLE SCREENING REVEALS NON-ARCHETYPAL DIGEORGE PATIENT

DiGeorge Syndrome (DGS) is a spectrum of disorders with variable manifestations including congenital heart malformations, immunodeficiency, facial dysmorphism, hypocalcemia, and developmental delay, leading to diagnosis at a wide age range.1 Patients without classic cardiac malformations frequently remain undiagnosed longer, diagnosed only after developing recurrent infections, learning difficulties, or mental health problems. 2

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