阿曼首例腺苷脱氨酶2（DADA2）缺乏症新突变病例：病例报告
First Case of Deficiency of Adenosine Deaminase 2 (DADA2) in Oman With a Novel Mutation: A Case Report.
摘要(中文译文)
腺苷脱氨酶2缺乏症（DADA2）是一种罕见的常染色体隐性遗传病，由ADA2基因双等位基因功能缺失突变所致。其临床特征谱广泛，以血管炎、自身炎症、免疫功能失调和血液学异常为主，使该病诊断颇具挑战性。本病例报告呈现了阿曼首例有文献记录的DADA2病例，重点介绍ADA2基因的一种新发突变。报告深入阐述了诊断过程、治疗策略、系统性评估及以家庭为中心的管理，有助于增进对这一罕见病的认识。患者为一名18个月大的男性幼儿，表现为持续性双系血细胞减少及热性惊厥病史。基因检测发现ADA2基因一种新的纯合致病性变异。患者接受英夫利西单抗输注治疗并定期随访。本报告加深了对DADA2的理解。本病例中新发突变的鉴定进一步彰显了对DADA2发病机制及其临床意义不断增长的认识。有效的管理需要基因检测、系统性评估和靶向治疗。遗传咨询和家系筛查对于早期干预和疾病预防至关重要。仍需进一步研究以改进诊断、治疗及患者结局。
Abstract
Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disorder that results from biallelic loss-of-function mutations in the ADA2 gene. It is characterized by a spectrum of clinical features, predominantly vasculitis, autoinflammation, dysregulated immune function, and hematologic abnormalities, making it a challenging condition to diagnose. This case report presents the first documented case of DADA2 in Oman, highlighting a novel mutation in the ADA2 gene. It provides insights into the diagnostic process, therapeutic strategies, systemic evaluations, and family-focused management, contributing to the growing understanding of this rare disorder. This is a case of an 18-month-old male toddler who presented with persistent bi-cytopenia and a history of febrile seizures. Genetic testing revealed a novel homozygous pathogenic variant in the ADA2 gene. The patient was managed with infliximab infusions and regular follow-up. This report enhances the understanding of DADA2. The identification of a novel mutation in this case further highlights the growing insight into the pathogenesis of DADA2 and its clinical implications. Effective management requires genetic testing, systemic evaluation, and targeted therapy. Genetic counseling and family screening are crucial for early intervention and disease prevention. Further research is needed to improve diagnostics, treatments, and patient outcomes.
如何引用
AMA
Nasra M Al Ramadhani, Ruqaiya Al Jashmi, Safiya Al-Abrawi. First Case of Deficiency of Adenosine Deaminase 2 (DADA2) in Oman With a Novel Mutation: A Case Report.. Cureus. 2026; doi:10.7759/cureus.107895.
APA
Nasra M Al Ramadhani, Ruqaiya Al Jashmi, Safiya Al-Abrawi (2026). First Case of Deficiency of Adenosine Deaminase 2 (DADA2) in Oman With a Novel Mutation: A Case Report.. Cureus. https://doi.org/10.7759/cureus.107895
GB/T 7714
Nasra M Al Ramadhani, Ruqaiya Al Jashmi, Safiya Al-Abrawi. First Case of Deficiency of Adenosine Deaminase 2 (DADA2) in Oman With a Novel Mutation: A Case Report.[J]. Cureus, 2026 doi:10.7759/cureus.107895.
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