PDF(Pubmed)
Abstract：
Adenosine deaminase (ADA) deficiency, an autosomal recessive variant, is the second most common form of severe combined immunodeficiency (SCID). We report a unique case of a three-week-old neonate who presented with prolonged and severe SARS-CoV-2 infection associated with persistent lymphopenia, subsequently revealing ADA-deficient SCID. He presented with mild and insidious symptoms, and then his clinical condition rapidly deteriorated. He required ICU admission and mechanical ventilation and developed multiple co-infections including opportunistic pathogens. Flow cytometry and whole exome sequencing diagnosed ADA-deficient SCID. This case highlights the importance of recognizing primary immunodeficiency disorders in children who consistently display lymphopenia and experience prolonged opportunistic and viral infections. Detecting lymphopenia should prompt consideration of SCID, serving as a straightforward and cost-effective screening approach, particularly in nations such as the United Arab Emirates where T-cell receptor excision circles (TRECs) are not part of newborn screening protocols.
摘要：
腺苷脱氨酶（ADA）缺乏症，常染色体隐性变异,是严重联合免疫缺陷（SCID）的第二常见形式。我们报告了一个独特的病例，一个三周大的新生儿，他出现了与持续性淋巴细胞减少相关的长期和严重的SARS-CoV-2感染，随后发现ADA缺乏SCID。他表现出轻微而阴险的症状，然后他的临床状况迅速恶化。他需要入住ICU和机械通气，并出现多种共感染，包括机会性病原体。流式细胞术和全外显子组测序诊断ADA缺陷型SCID。该病例强调了在持续表现出淋巴细胞减少并经历长期机会性和病毒感染的儿童中识别原发性免疫缺陷疾病的重要性。检测淋巴细胞减少应提示SCID的考虑，作为一种直接且具有成本效益的筛查方法，特别是在阿拉伯联合酋长国等国家，T细胞受体切除圈（TRECs）不属于新生儿筛查方案的一部分。
