X-连锁无丙种球蛋白血症合并血液肿瘤患儿的临床及免疫学特征分析  

Clinical and immunological features of X-linked agammaglobulinaemia patients complicated with hematological malignancy

作　　者：余婷婷 陈欢 徐莉[1] 闫欣 刘大玮[1] 徐曼 唐雪梅[1] 赵晓东[1] 毛华伟[1] YU Tingling;CHEN Huan;XU Li;YAN Xin;LIU Dawei;XU Man;TANG Xuemei;ZHAO Xiaodong;MAO Huawei(Department of Rheumatology and Immunology,Children' s Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Child Infection and Immunity,Chongqing 400014,China;Department of Clinical Pathology Diagnostic Center,Children' s Hospital of Chongqing Medical University,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科,儿童发育疾病研究教育部重点实验室,儿童发育重大疾病国家国际科技合作基地,儿童感染免疫重庆市重点实验室,400014 [2]重庆医科大学附属儿童医院,临床病理诊断中心,400014

出　　处：《免疫学杂志》2019年第7期613-618,共6页Immunological Journal

基　　金：国家自然科学基金(81671626);重庆医科大学附属儿童医院引进人才启动基金(4000026)

摘　　要：目的探讨X-连锁无丙种球蛋白血症(X-linked agammaglobulinaemia,XLA)合并血液肿瘤患儿的临床特征和免疫学特征,提高临床医生对XLA合并血液肿瘤的认识。方法回顾性分析我国首例XLA合并间变性大细胞淋巴瘤患儿的临床特征、实验室检查、免疫学特征及诊治经过;搜索国内外相关文献并加以分析。结果患儿表现为反复呼吸道感染、中耳炎、鼻窦炎,5岁并发间变性大细胞淋巴瘤。免疫学检查提示外周B细胞缺如,各型免疫球蛋白下降,基因分析发现Bruton酪氨酸激酶BTK基因c.1909-2A>G剪接突变。查询国内外相关文献,国外已报道9例XLA患者并发血液肿瘤,包括白血病和淋巴瘤,国内尚无相关报道。结论该患儿为我国第1例XLA合并血液肿瘤患者,得到了及时诊疗。文献提示XLA仍有发生血液肿瘤的风险,临床医生应该警惕该合并症的发生。X-linked agammaglobulinaemia(XLA), one of the most common primary immunodeficiency diseases, is characterized by lack of peripheral mature B-cells and low level of serum immunoglobulins. Although hematological malignancy has been reported in 9 patients with XLA abroad, we will describe the clinical characteristics and immunological features of the first X-linked agammaglobulinaemia patient complicated with hematological malignancy in China. The patient presented recurrent respiratory tract infections, otitis media,sinusitis and complicated with anaplastic large cell lymphoma at the age of 5 years. The percentage of peripheral B cells and serum immunoglobulin levels were markedly reduced. Genetic sequencing showed c. 1909-2 A>G mutation of BTK. This study suggests that XLA has a risk of hematological malignancy, so we should raise awareness of the complication.

关 键 词：原发性免疫缺陷病 X-连锁无丙种球蛋白血症 血液肿瘤 淋巴瘤 

分 类 号：R593.31[医药卫生—内科学]