Bilbao Aburto A, Arana Aguirre N, García Martínez J M, Astigarraga Aguirre I, Allende L M
Hospital de Cruces, Vizcaya, España.
An Pediatr (Barc). 2010 Apr;72(4):278-81. doi: 10.1016/j.anpedi.2009.11.026. Epub 2010 Mar 15.
The autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defect in lymphocyte apoptosis. Chronic lymphadenopathy and splenomegaly are the consequence of lymphoproliferation. The diagnosis is based on the assessment of the defective lymphocyte apoptosis and the identification of lymphocyte T subset that are double negative (CD4-CD8-). The susceptibility to lymphoma and autoimmune diseases, mainly blood cytopenias is increased.
We studied a 14 year-old boy with chronic splenomegaly and familial history of splenomegaly and lymphadenopathy. T lymphocyte phenotypes, and molecular defect of TNFRSF6 gene were studied in the child, his sister and his father. Lymphocyte apoptosis was also analysed in the child and his father.
The boy and his father showed in vitro apoptosis defects, an increased number of double negative T lymphocytes (18% and 5%, respectively) and the same mutation in the TNFRSF6 gene. His sister had 16% of double negative T lymphocytes and the mutation in the TNFRSF6 gene.
Chronic familial splenomegaly can be the only clinical sign of autoimmune lymphoproliferative syndrome.
自身免疫性淋巴细胞增生综合征（ALPS）由淋巴细胞凋亡的基因缺陷引起。慢性淋巴结病和脾肿大是淋巴细胞增生的结果。诊断基于对有缺陷的淋巴细胞凋亡的评估以及对双阴性（CD4-CD8-）淋巴细胞T亚群的鉴定。患淋巴瘤和自身免疫性疾病（主要是血细胞减少症）的易感性增加。
我们研究了一名14岁慢性脾肿大男孩，其有脾肿大和淋巴结病家族史。对该患儿、其姐姐和父亲进行了T淋巴细胞表型及TNFRSF6基因分子缺陷的研究。还对该患儿及其父亲的淋巴细胞凋亡进行了分析。
该男孩及其父亲表现出体外凋亡缺陷、双阴性T淋巴细胞数量增加（分别为18%和5%）以及TNFRSF6基因相同突变。他的姐姐有16%的双阴性T淋巴细胞以及TNFRSF6基因突变。
慢性家族性脾肿大可能是自身免疫性淋巴细胞增生综合征的唯一临床体征。
