英国家庭中的X连锁淋巴细胞增生性疾病
X linked lymphoproliferative disease in a United Kingdom family.
作者信息
Arkwright P D, Makin G, Will A M, Ayres M, Gokhale D A, Fergusson W D, Taylor G M
机构信息
St Mary's Hospital, Manchester, Department of Child Health, UK.
出版信息
Arch Dis Child. 1998 Jul;79(1):52-5. doi: 10.1136/adc.79.1.52.
X linked lymphoproliferative disease (XLP; Duncan's disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein-Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with life threatening fulminant infectious mononucleosis was successfully treated by chemotherapy, followed by bone marrow transplantation using an unaffected brother as the donor. A healthy baby boy recently born into the family was identified as carrying the defective maternal X chromosome using molecular genetic linkage analysis. This family illustrates the extent of present understanding of this often fatal condition.
X连锁淋巴增殖性疾病（XLP；邓肯氏病）是一种罕见的疾病，主要影响男孩，其特征是对爱泼斯坦-巴尔病毒的免疫反应存在缺陷，这是由位于Xq25染色体上的一个基因突变引起的。本文报道了一个英国家庭中的三名患有XLP的兄弟姐妹，并描述了该疾病在这些兄弟姐妹中的表型表达差异。其中一名患有危及生命的暴发性传染性单核细胞增多症的兄弟姐妹通过化疗成功治疗，随后使用未受影响的兄弟作为供体进行了骨髓移植。通过分子遗传连锁分析，确定这个家庭中最近出生的一名健康男婴携带缺陷的母源X染色体。这个家庭说明了目前对这种往往致命疾病的了解程度。
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