GATA2 deficiency detected by newborn screening for SCID: A case report. Front Pediatr 2022;10:1031106
Date
02/03/2023Pubmed ID
36726998Pubmed Central ID
PMC9886089DOI
10.3389/fped.2022.1031106Scopus ID
2-s2.0-85147166600 (requires institutional sign-in at Scopus site) 1 CitationAbstract
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 led to the discovery of novel genetic defects that cause this disease. GATA2 deficiency is an autosomal dominant, pleiotropic disease with clinical manifestations that include bone marrow failure, monocyte and B cell deficiency, leukemia, pulmonary alveolar proteinosis and lymphedema. We present the case of an infant identified by newborn screening for SCID due to GATA2 deficiency.
Author List
Escobar Vasco A, Broglie L, Talano JA, Routes J, Verbsky J, Remiker AAuthors
Larisa Broglie MS, MD Associate Professor in the Pediatrics department at Medical College of WisconsinAlejandra M. Escobar Vasco MD Assistant Professor in the Pediatrics department at Medical College of Wisconsin
Allison S. Remiker MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
John Routes MD Professor in the Pediatrics department at Medical College of Wisconsin
Julie-An M. Talano MD Professor in the Pediatrics department at Medical College of Wisconsin
James Verbsky PhD, MD Professor in the Pediatrics department at Medical College of Wisconsin
