Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis

Afonina I. S., Van Nuffel E., Baudelet G., Driege Y., Kreike M., Staal J. et al. 2016 The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes. EMBO Rep. 17, 914–927. Ammar M., Jordan C. T., Cao L., Lim E., Bouchlaka Souissi C., Jrad A. et al. 2016 CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts. Br. J. Dermatol. 174, 330–337. Bertin J., Wang L., Guo Y., Jacobson M. D., Poyet J. L., Srinivasula S. M. et al. 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, 11877–11882. Deng Y., Chang C. and Lu Q. 2016 The inflammatory response in psoriasis: a comprehensive review. Clin. Rev. Allergy Immunol. 50, 377–389. Ding X., Wang T., Shen Y., Wang X., Zhou C., Tian S. et al. 2012 Prevalence of psoriasis in China: a population-based study in six cities. Eur. J. Dermatol. 22, 663–667. Elder J. T., Bruce A. T., Gudjonsson J. E., Johnston A., Stuart P. E., Tejasvi T. et al. 2010 Molecular dissection of psoriasis: integrating genetics and biology. J. Invest. Dermatol. 130, 1213–1226. Eskin-Schwartz M., Basel-Vanagaite L., David M., Lagovsky I., Ben-Amitai D., Smirin-Yosef P. et al. 2016 Intra-familial variation in clinical phenotype of CARD14-related psoriasis. Acta Derm. Venereol. 96, 885–887. Jordan C. T., Cao L., Roberson E. D., Pierson K. C., Yang C. F., Joyce C. E. et al. 2012a PSORS2 is due to mutations in CARD14. Am. J. Hum. Genet. 90, 784–795. Jordan C. T., Cao L., Roberson E. D., Duan S., Helms C. A., Nair R. P. et al. 2012b Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappa B, in psoriasis. Am. J. Hum. Genet. 90, 796–808. Körber A., Mössner R., Renner R., Sticht H., Wilsmann-Theis D., Schulz P. et al. 2013 Mutations in IL36RN in patients with generalized pustular psoriasis. J. Invest. Dermatol. 133, 2634–2637. Lek M., Karczewski K. J., Minikel E. V., Samocha K. E., Banks E., Fennell T. et al. 2016 Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291. Lowes M. A., Suarez-Farinas M. and Krueger J. G. 2014 Immunology of psoriasis. Annu. Rev. Immunol. 32, 227–255. Mellett M., Meier B., Mohanan D., Schairer R., Cheng P., Satoh T. K. et al. 2018 CARD14 gain-of-function mutation alone is sufficient to Drive IL-23/IL-17-mediated psoriasiform skin inflammation in vivo. J. Invest. Dermatol. 138, 2010–2023. Qin P., Zhang Q., Chen M., Fu X., Wang C., Wang Z. et al. 2014 Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis. J. Invest. Dermatol. 134, 2994–2996. Sofen H., Smith S., Matheson R. T., Leonardi C. L., Calderon C., Brodmerkel C. et al. 2014 Guselkumab (an IL-23-specific mAb) demonstrates clinical and molecular response in patients with moderate-to-severe psoriasis. J. Allergy Clin. Immunol. 133, 1032–1040. Sugiura K., Muto M. and Akiyama M. 2014 CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with Psoriasis vulgaris in the Japanese cohort. J. Invest. Dermatol. 134, 1755–1757. Van Nuffel E., Schmitt A., Afonina I. S., Schulze-Osthoff K., Beyaert R. and Hailfinger S. 2016 CARD14-mediated activation of paracaspase MALT1 in keratinocytes: implications for psoriasis. J. Invest. Dermatol. 137, 569–575. Wang M., Zhang S., Zheng G., Huang J., Songyang Z., Zhao X. et al. 2018 Gain-of-function mutation of Card14 leads to spontaneous psoriasis-like skin inflammation through enhanced keratinocyte response to IL-17A. Immunity 49, 66–79. Yiu Z. Z. and Griffiths C. E. 2016 Interleukin 17-A inhibition in the treatment of psoriasis. Expert Rev. Clin. Immunol. 12, 1–4.