双阴性T细胞检测在自身免疫性淋巴细胞增生综合征诊断中的重要性:1例报告并文献复习

The importance of double-negative T cells in the diagnosis of autoimmune lymphoproliferative syndrome:a case report and review of the literatures

目的提高对自身免疫性淋巴细胞增生综合征(ALPS)的认识、减少漏诊,并认识TCRαβ+CD3+CD4-CD8-T细胞(DNTs)检测在本病诊断中的重要性。方法对1例ALPS患者资料进行临床分析及文献复习。结果该例患儿反复发生溶血性贫血、血小板减少。通过颈部淋巴结活检、骨髓形态及病理、染色体核型及DNTs比例、免疫球蛋白定量检测,发现患儿病史长达7年余,反复发生溶血性贫血、血小板减少、淋巴结及肝脾肿大。外周血DNTs比例为8.99%(>5%),IgG升高。糖皮质激素治疗有效。结论临床上出现无法解释的淋巴结肿大、肝脾肿大及自身免疫性溶血、血小板减少的患者应考虑ALPS可能,外周血DNTs比例检测有助于ALPS的早期诊断。

Objective To better understand the importance of TCRαβ ＋ CD3 ＋ CD4-CD8-T-cell （DNTs） in the diagnosis of autoimmune lymphoproliferative syndrome （ALPS） and reduce the missed diagnosis.Methods A case diagnosed as ALPS was reported and the related articles were reviewed.Results The patient had a 7-year history and presented with recurrent hemolytic anemia,thrombocytopenia,lymphadenopathy and hepatosplenomegaly.Cervical lymph node biopsy,bone marrow aspiration and biopsy,chromosome karyotype,double-negative T cells （DNTs） and immunoglobulin detection were performed.The ratio of DNTs was 8.99% with an increased level of serum IgG.The therapeutic effect of glucocorticoid was positive.Conclusions ALPS should be considered when children has tmexplained lyrnphadenopathy,hepatosplenomegaly or autoimmtme hemolysis.The ratio of DNTs should be evaluated to make an earlier diagnosis.