Case of @entity498 with massive @entity272 , @entity3807 and @entity2407 with a novel mutation in the XXXX gene.

@entity1 @entity23658 @entity82 @entity8959 @entity1901 @entity3807 @entity2407 @entity3041 @entity71849 @entity498 @entity1463 @entity272 @entity393 @entity71848 @entity369 @entity617
UNASSIGNED: We describe a case of @entity498 with massive @entity272 , @entity3807 and @entity2407 . A 48-year-old @entity1 with parents of a consanguineous marriage, first appeared with decreased urine output, @entity272 on his inner thighs and short stature (142  cm, 47  kg). The @entity1 had suffered from @entity393 since the age of 1  year, and his secondary sexual characteristics had not developed. Computed tomography showed periaortic @entity82 , bilateral @entity1901 , @entity3041 and @entity1463 of the germinal cords. A biopsy from the retroperitoneal mass revealed remarkable @entity82 with chronic inflammatory cells. Biopsies from the @entity272 showed thick collagen bundles through the dermis and lymphohistiocytic infiltration with numerous plasma cells. Serum inflammatory markers, such as C-reactive protein, vascular endothelial factor, transforming growth factor-b and soluble interleukin-2 receptor, were elevated. @entity617 was effective in treating @entity272 and in lowering serum inflammatory markers. After a long period of follow up, genomic DNA of the @entity1 was obtained, and we identified a homozygous mutation in exon 5, @entity71848 , which caused transition of @entity8959 to @entity369 , @entity71849 , in the @entity1 , but not in DNA samples from another 50 healthy individuals. This is the first case of @entity498 with @entity2407 and @entity3807 , and the first Japanese case of @entity498 reported in the English published work with a novel mutation in the @entity23658 gene.
