Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency Unmasked by Persistent Lymphopenia and Prolonged Severe SARS-CoV-2 Infection in a Three-Week-Old Neonate

一名三周大的新生儿因持续性淋巴细胞减少症和长期严重的SARS-CoV-2感染而暴露出腺苷脱氨酶(ADA)缺乏型重症联合免疫缺陷

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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.

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