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Case Reports
. 2023 Jan 16:10:1031106.
doi: 10.3389/fped.2022.1031106. eCollection 2022.

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

Alejandra Escobar Vasco  1 , Larisa Broglie  1 , Julie-An Talano  1 , John Routes  2 , James Verbsky  3 , Allison Remiker  1
Affiliations
Case Reports

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

Alejandra Escobar Vasco et al. Front Pediatr. .

Abstract

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.

Keywords: GATA2; T cell receptor excision circles; hematopoietic stem cell transplant; inborn errors of immunity; severe combined immunodeficiency.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Timeline of events of patient described.
See this image and copyright information in PMC

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