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

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。

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

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.