Escobar Vasco Alejandra, Broglie Larisa, Talano Julie-An, Routes John, Verbsky James, Remiker Allison
Division of Hematology/Oncology/Blood and Marrow Transplantation, Department of Pediatrics, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, United States.
Division of Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, United States.
Front Pediatr. 2023 Jan 16;10:1031106. doi: 10.3389/fped.2022.1031106. eCollection 2022.
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.
先天性免疫缺陷（IEI）的早期诊断和治疗对于降低这些疾病所致的发病率和死亡率至关重要。开展新生儿筛查（NBS）以诊断重症联合免疫缺陷（SCID）降低了该疾病的死亡率，并促成了导致该病的新型基因缺陷的发现。GATA2缺陷是一种常染色体显性多效性疾病，其临床表现包括骨髓衰竭、单核细胞和B细胞缺陷、白血病、肺泡蛋白沉积症和淋巴水肿。我们报告了一例因GATA2缺陷通过新生儿筛查确诊为SCID的婴儿病例。
