低丙种球蛋白血症伴NK细胞减少:1例原发性免疫缺陷病患儿4年随访

目的 分析1例低蛋白血症伴NK细胞减少患儿的临床和免疫学特征.方法 详细分析患儿临床资料,并结合实验室血常规检查、淋巴细胞亚群分析、中性粒细胞功能、细胞因子以及淋巴细胞增殖功能分析,来探讨其免疫学特征.结果 收住院的1例3岁男性患儿的主要临床表现是反复发作的发热、腹痛和部分性肠梗阻.免疫学检查显示低丙种球蛋白血症、B细胞和NK细胞绝对计数降低和B细胞功能受损.患儿曾出现肠系膜淋巴结肿大和盲肠肿块,影像学显示回盲部结核感染.患儿病程中曾出现巨细胞病毒和真菌感染,这两种感染对于单纯抗体缺陷的原发性免疫缺陷病并不常见.对该患儿随访4年,期间患儿出现反复发作的牙周炎并导致牙齿脱落.结论 目前该患儿尚无法明确是何种类型的原发性免疫缺陷病,根据其特异性的临床表现和免疫学特征,可能为某种以抗体缺陷为主的原发性免疫缺陷病.

Hypogammaglobulinaemia with low natural killer cell numbers:a case report with four year of follow-up

Objective To explore the immune characteristic of a patient with hypogammaglobulinaemia and low natural killer(NK)cell numbers.Methods Case histories were analyzed repeatedly to grasp important characteristics of the disease.A routine blood examination and peripheral blood immunological detection was done.Complete neutrophil function test,lymphocyte proliferation ability and cytokine profile were evaluated.Results A 3-year-old boy was referred to the hospital because of fever and abdominal pain as well as p...