Abstract:

To report the clinical features，its treatment and follow-up of one autoimmune lymphoproliferative syndrome （ALPS），and enhance the recognition of this rare disease in China. Methods　The clinical features，treatment and follow-up data of a case diagnosed as ALPS in our hospital were analyzed，and related literature was reviewed. Results　This 1-year-and-11- month old boy presented with pancytopenia，hepatosplenomegaly，and lymphadenopathy，as well as the clinical features of glomerulonephritis and inflammatory bowel disease.The percentage of CD3+CD4CD8 double negative T （DNT） cell increased markedly and had positive autoantibodies，such as PAIgG，ANA， ANCA and insulin autoantibody.The genes of Fas，Fas ligand and Casp10 were sequenced but no mutation was found.Glucocorticosteroid in combination with other immunosuppressive agents was effective in short term，but relapses occurred when glucocorticosteroid was tapered. Conclusion　The diagnosis of autoimmune lymphoproliferative syndrome in this case is clinically proper. It would reduce misdiagnosis rate if the recognition of this disease is enhanced.

Key words: autoimmune, lymphoproliferative syndrome, glomerulonephritis, inflammatory bowel disease

摘要：

报道1例自身免疫性淋巴细胞增殖综合征的临床特点、诊断、治疗及随访，提高国内儿科医生对该病的认识。方法　2009年5月中山大学附属第一医院收治1例自身免疫性淋巴细胞增殖综合征患儿，回顾分析该患儿临床资料及诊疗过程，复习国内外相关文献。结果　患儿1岁11个月，以全血细胞减少、肝脾淋巴结肿大为主要临床表现，并有肾小球肾炎、炎症性肠病的临床表现，CD3+且CD4、CD8双阴性细胞比例明显升高，伴PaIgG、ANA、ANCA、胰岛素自身抗体等抗体阳性。Fas、FasL及Casp10基因检测未发现基因突变。糖皮质激素联合其他免疫抑制剂治疗短期效果明显，但激素减量时易反复。结论　本病例在临床上诊断自身免疫性淋巴增殖综合征可成立。提高对本病的认识可以减少误诊率。

关键词: 自身免疫性, 淋巴细胞增殖综合征, 肾小球肾炎, 炎症性肠病