Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

The American Journal of Human Genetics - Tập 91 - Trang 163-170 - 2012
Dana Fuchs-Telem1,2, Ofer Sarig1, Maurice A.M. van Steensel3,4, Ofer Isakov5, Shirli Israeli1,2, Janna Nousbeck1, Katharina Richard6,7, Veronique Winnepenninckx4,8, Marigje Vernooij3, Noam Shomron5, Jouni Uitto7, Philip Fleckman9, Gabriele Richard10, Eli Sprecher1,2
1Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel
2Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel
3Department of Dermatology, Maastricht University Medical Centre, Maastricht 6200, The Netherlands
4GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht 6200, The Netherlands
5Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
6Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, MD 21201-1559, USA
7Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
8Department of Pathology, Maastricht University Medical Center, Maastricht 6200, The Netherlands
9Division of Dermatology, University of Washington, Seattle, WA 98195, USA
10GeneDx, Gaithersburg, MD 20877 USA

Tài liệu tham khảo

Albert, 1999, Pityriasis rubra pilaris, Int. J. Dermatol., 38, 1, 10.1046/j.1365-4362.1999.00513.x Sehgal, 2006, (Juvenile) Pityriasis rubra pilaris, Int. J. Dermatol., 45, 438, 10.1111/j.1365-4632.2006.02666.x Thomson, 2007, Pityriasis rubra pilaris in a mother and two daughters, Br. J. Dermatol., 157, 202, 10.1111/j.1365-2133.2007.07938.x Sehgal, 2000, Pityriasis rubra pilaris (PRP): Report of four cases, J. Dermatol., 27, 174, 10.1111/j.1346-8138.2000.tb02146.x Kint, 1972, Pityriasis rubra pilaris, a familial condition, Arch. Belg. Dermatol. Syphiligr., 28, 371 Sehgal, 2002, Familial pityriasis rubra pilaris (adult classic-I): A report of three cases in a single family, Skinmed, 1, 161, 10.1111/j.1540-9740.2002.01663.x Vanderhooft, 1995, Familial pityriasis rubra pilaris, Arch. Dermatol., 131, 448, 10.1001/archderm.1995.01690160076012 Vasher, 2010, Familial pityriasis rubra pilaris: Report of a family and therapeutic response to etanercept, J. Drugs Dermatol., 9, 844 Griffiths, 1980, Pityriasis rubra pilaris, Clin. Exp. Dermatol., 5, 105, 10.1111/j.1365-2230.1980.tb01676.x Griffiths, 1992, Pityriasis rubra pilaris: The problem of its classification, J. Am. Acad. Dermatol., 26, 140, 10.1016/S0190-9622(08)80543-9 Misery, 1996, Pityriasis rubra pilaris and human immunodeficiency virus infection—type 6 pityriasis rubra pilaris?, Br. J. Dermatol., 135, 1008, 10.1046/j.1365-2133.1996.d01-1114.x Miralles, 1995, Pityriasis rubra pilaris and human immunodeficiency virus infection, Br. J. Dermatol., 133, 990, 10.1111/j.1365-2133.1995.tb06939.x Menni, 1992, Pityriasis rubra pilaris in a child seropositive for the human immunodeficiency virus, J. Am. Acad. Dermatol., 27, 1009, 10.1016/S0190-9622(08)80267-8 Auffret, 1992, Pityriasis rubra pilaris in a patient with human immunodeficiency virus infection, J. Am. Acad. Dermatol., 27, 260, 10.1016/S0190-9622(08)80734-7 Betlloch, 2001, Acute juvenile pityriasis rubra pilaris: A superantigen mediated disease?, Pediatr. Dermatol., 18, 411, 10.1046/j.1525-1470.2001.01967.x Klein, 2010, Pityriasis rubra pilaris: A review of diagnosis and treatment, Am. J. Clin. Dermatol., 11, 157, 10.2165/11530070-000000000-00000 Braun-Falco, 1983, Pityriasis rubra pilaris: A clinico-pathological and therapeutic study with special reference to histochemistry, autoradiography, and electron microscopy, Arch. Dermatol. Res., 275, 287, 10.1007/BF00417199 Soeprono, 1986, Histologic criteria for the diagnosis of pityriasis rubra pilaris, Am. J. Dermatopathol., 8, 277, 10.1097/00000372-198608000-00001 Schön, 2005, Psoriasis, N. Engl. J. Med., 352, 1899, 10.1056/NEJMra041320 Magro, 1997, The clinical and histomorphological features of pityriasis rubra pilaris. A comparative analysis with psoriasis, J. Cutan. Pathol., 24, 416, 10.1111/j.1600-0560.1997.tb00816.x Scudiero, 2011, Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death, J. Cell. Physiol., 226, 3121, 10.1002/jcp.22667 Bertin, 2001, CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B, J. Biol. Chem., 276, 11877, 10.1074/jbc.M010512200 Gudbjartsson, 2000, Allegro, a new computer program for multipoint linkage analysis, Nat. Genet., 25, 12, 10.1038/75514 Hoffmann, 2005, easyLINKAGE-Plus—automated linkage analyses using large-scale SNP data, Bioinformatics, 21, 3565, 10.1093/bioinformatics/bti571 Schuelke, 2000, An economic method for the fluorescent labeling of PCR fragments, Nat. Biotechnol., 18, 233, 10.1038/72708 Fishelson, 2002, Exact genetic linkage computations for general pedigrees, Bioinformatics, 18, S189, 10.1093/bioinformatics/18.suppl_1.S189 Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324 Li, 2009, The Sequence Alignment/Map format and SAMtools, Bioinformatics, 25, 2078, 10.1093/bioinformatics/btp352 Blonska, 2011, NF-κB signaling pathways regulated by CARMA family of scaffold proteins, Cell Res., 21, 55, 10.1038/cr.2010.182 Wullaert, 2011, NF-κB in the regulation of epithelial homeostasis and inflammation, Cell Res., 21, 146, 10.1038/cr.2010.175 Jordan, 2012, PSORS2 Is Due to Mutations in CARD14, Am. J. Hum. Genet., 90, 784, 10.1016/j.ajhg.2012.03.012 Seibl, 2004, Pattern recognition receptors and their involvement in the pathogenesis of arthritis, Curr. Opin. Rheumatol., 16, 411, 10.1097/01.bor.0000127108.08398.34 Jordan, 2012, Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis, Am. J. Hum. Genet., 90, 796, 10.1016/j.ajhg.2012.03.013 Jun, 2003, Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis, Immunity, 18, 751, 10.1016/S1074-7613(03)00141-9 Seitz, 2000, NF-kappaB determines localization and features of cell death in epidermis, J. Clin. Invest., 105, 253, 10.1172/JCI7630 Lories, 2008, Activation of nuclear factor kappa B and mitogen activated protein kinases in psoriatic arthritis before and after etanercept treatment, Clin. Exp. Rheumatol., 26, 96 Karin, 2006, Innate immunity gone awry: Linking microbial infections to chronic inflammation and cancer, Cell, 124, 823, 10.1016/j.cell.2006.02.016 De Beurmann, B., Heuyer. (1910). Pityriasis rubra pilaire familial. Ann Dermatol Syphiligr (Paris) 1(ser 5), 609–619.