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ADA基因新发突变致不典型重症联合免疫缺陷病一例并文献复习
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Abstract:
目的：探讨一例腺苷脱氨酶(adenosine deaminase, ADA)基因新发突变致不典型重症联合免疫缺陷病，加强临床医生对该病的早期诊断与认识。方法：回顾性分析2022年2月青岛大学附属妇女儿童医院收治的一例ADA缺乏症致不典型重症联合免疫缺陷病的患儿，结合相关文献分析该病的临床表现、免疫分型及基因诊断。结果：该患儿以反复感染，血液、免疫、呼吸、内分泌等多系统受累为主要临床表现，实验室检查提示淋巴细胞减少、lgE明显升高，基因检测发现ADA基因新发突变位点，诊断为ADA缺乏症致不典型重症联合免疫缺陷病，在积极控制感染同时，予免疫支持治疗，病情好转。目前予积极完善配型，等待造血干细胞移植。结论：不典型重症联合免疫缺陷病患儿起病年龄较晚，免疫损害轻，单靠临床表现较难分辨，基因检测为该病确诊提供重要依据。
Objective: To investigate a case of atypical severe combined immunodeficiency caused by a new mutation in the adenosine deaminase (ADA) gene and to enhance clinicians’ early diagnosis and understanding of the disease. Methods: A retrospective analysis was performed for a child admitted to Women and Children’s Hospital, Qingdao University, in February 2022, with atypical severe com-bined immunodeficiency due to ADA deficiency. Combined with relevant literature, the clinical manifestations, immunophenotyping, and genetic diagnosis of the disease were analyzed. Results: The child had recurrent infection and blood, immune, respiratory, endocrine, and other mul-ti-system involvement as the primary clinical manifestations. Laboratory tests showed lymphopenia and markedly elevated lgE. Gene examination revealed new mutation sites of ADA gene, which was diagnosed as ADA deficiency, causing atypical severe combined immunodeficiency disease. While actively controlling the infection, he was given immunosupportive therapy. Afterward, his condition improved. The child is currently actively refining the matching and waiting for hematopoietic stem cell transplantation. Conclusion: Children with atypical severe combined immunodeficiency disease have a late onset and mild immune impairment. It is difficult to distinguish the children by clinical manifestations alone. Genetic testing provides an important basis for the diagnosis of the disease.
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