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Ammar M.,Tunis el Manar University | Jordan C.T.,University of Washington | Cao L.,University of Washington | Lim E.,University of Washington | And 13 more authors.
British Journal of Dermatology | Year: 2016

Background Rare highly penetrant gain-of-function mutations in caspase recruitment domain family, member 14 (CARD14) can lead to psoriasis, a chronic inflammatory disease of the skin and other organs. Objectives To investigate the contribution of rare CARD14 variants to psoriasis in the Tunisian population and to expand knowledge of CARD14 variants in the European population. Methods CARD14 coding exons were resequenced in patients with psoriasis and controls from Tunisia and Europe, including 16 European cases with generalized pustular psoriasis (GPP). Novel variants were evaluated for their effect on nuclear factor (NF)-κB signalling. Results Rare variants in CARD14 were significantly enriched in Tunisian cases compared with controls. Three were collectively found in 5% of Tunisian cases, and all affected the N-terminal region of the protein harbouring its caspase recruitment domain or coiled-coil domain. These variants were c.349G>A (p.Gly117Ser), c.205C>T (p.Arg69Trp) and c.589G>A (p.Glu197Lys). c.589G>A (p.Glu197Lys) led to upregulation of NF-κB activity in a similar manner to that of previously described psoriasis-associated mutations. p.Arg69Trp led to sevenfold downregulation of NF-κB activity. One Tunisian case harboured a c.1356+5G>A splice alteration that is predicted to lead to loss of exon 9, which encodes part of the coiled-coil domain. No cases of GPP harboured an interleukin-36RN mutation, but one of 16 cases of GPP with a family history of psoriasis vulgaris harboured a c.1805C>T (p.Ser602Leu) mutation in CARD14. Conclusions These observations provide further insights into the genetic basis of psoriasis in the Tunisian population and provide functional information on novel CARD14 variants seen in cases from Tunisia and other populations. © 2015 British Association of Dermatologists. Source


Salem A.B.,La Rabta Hospital of Tunis | Nfoussi H.,La Rabta Hospital of Tunis | Kchir N.,La Rabta Hospital of Tunis
Indian Journal of Urology | Year: 2014

We report a case of 76-year-old man, with a past medical history of primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT), who presented with ureteral tumor diagnosed as urothelial carcinoma on imaging investigations. Histological examination showed an unusual finding. The tumor was a ureteral localization of the PCDLBCL-LT previously diagnosed. To the best of our knowledge, this is the first case of PCDLBCL-LT with ureteral spread described in the literature. Source

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