Literature DB >> 30953287

Interleukin-36 Receptor Antagonist Deficiency (DITRA) with a Novel IL36RN Homozygous Mutation c.200G > T (P.Cys67Phe) in a Young Colombian Woman.

Andres F Zea-Vera1,2, Felipe E Estupiñan-Lopez3, Jaqueline Cifuentes-Burbano3, Myriam J Vargas3,4, Anilza Bonelo5.   

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Year:  2019        PMID： 30953287     DOI： 10.1007/s10875-019-00622-7

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  5 in total

1.  Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

Authors:  Alexandros Onoufriadis; Michael A Simpson; Andrew E Pink; Paola Di Meglio; Catherine H Smith; Venu Pullabhatla; Jo Knight; Sarah L Spain; Frank O Nestle; A David Burden; Francesca Capon; Richard C Trembath; Jonathan N Barker
Journal:  Am J Hum Genet       Date:  2011-08-11       Impact factor: 11.025

2.  High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).

Authors:  Nadia Bonekamp; Roberta Caorsi; Joost Frenkel; Marco Gattorno; Gian Maria Viglizzo; Marlies de Graaf; Francesca Minoia; Alice Grossi; Paolo Picco; Isabella Ceccherini
Journal:  Ann Rheum Dis       Date:  2017-09-02       Impact factor: 19.103

3.  Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Authors:  Slaheddine Marrakchi; Philippe Guigue; Blair R Renshaw; Anne Puel; Xue-Yuan Pei; Sylvie Fraitag; Jihen Zribi; Elodie Bal; Céline Cluzeau; Maya Chrabieh; Jennifer E Towne; Jason Douangpanya; Christian Pons; Sourour Mansour; Valérie Serre; Hafedh Makni; Nadia Mahfoudh; Faiza Fakhfakh; Christine Bodemer; Josué Feingold; Smail Hadj-Rabia; Michel Favre; Emmanuelle Genin; Mourad Sahbatou; Arnold Munnich; Jean-Laurent Casanova; John E Sims; Hamida Turki; Hervé Bachelez; Asma Smahi
Journal:  N Engl J Med       Date:  2011-08-18       Impact factor: 91.245

4.  The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

Authors:  Kazumitsu Sugiura; Akemi Takemoto; Michiya Yamaguchi; Hidetoshi Takahashi; Yukiko Shoda; Teruyuki Mitsuma; Kenshiro Tsuda; Emi Nishida; Yaei Togawa; Kimiko Nakajima; Akihiro Sakakibara; Shigeo Kawachi; Makoto Shimizu; Yasutomo Ito; Takuya Takeichi; Michihiro Kono; Yasushi Ogawa; Yoshinao Muro; Akemi Ishida-Yamamoto; Shigetoshi Sano; Hiroyuki Matsue; Akimichi Morita; Hitoshi Mizutani; Hajime Iizuka; Masahiko Muto; Masashi Akiyama
Journal:  J Invest Dermatol       Date:  2013-05-22       Impact factor: 8.551

5.  Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin.

Authors:  Edwin Cuperus; Rosanne Koevoets; Jasper J van der Smagt; Johan Toonstra; Marlies de Graaf; Joost Frenkel; Suzanne G M A Pasmans
Journal:  JAAD Case Rep       Date:  2018-02-02
  5 in total
  3 in total

1.  Epicutaneous Staphylococcus aureus induces IL-36 to enhance IgE production and ensuing allergic disease.

Authors:  Garrett J Patrick; Haiyun Liu; Martin P Alphonse; Dustin A Dikeman; Christine Youn; Jack C Otterson; Yu Wang; Advaitaa Ravipati; Momina Mazhar; George Denny; Roger V Ortines; Emily Zhang; Robert J Miller; Carly A Dillen; Qi Liu; Sabrina J Nolan; Kristine Nguyen; LeeAnn Marcello; Danh C Do; Eric M Wier; Yan Zhang; Gary Caviness; Alexander C Klimowicz; Diane V Mierz; Jay S Fine; Guangping Sun; Raphaela Goldbach-Mansky; Alina I Marusina; Alexander A Merleev; Emanual Maverakis; Luis A Garza; Joshua D Milner; Peisong Gao; Meera Ramanujam; Ernest L Raymond; Nathan K Archer; Lloyd S Miller
Journal:  J Clin Invest       Date:  2021-03-01       Impact factor: 14.808

Review 2.  Monogenic Adult-Onset Inborn Errors of Immunity.

Authors:  Frederik Staels; Tom Collignon; Albrecht Betrains; Margaux Gerbaux; Mathijs Willemsen; Stephanie Humblet-Baron; Adrian Liston; Steven Vanderschueren; Rik Schrijvers
Journal:  Front Immunol       Date:  2021-11-17       Impact factor: 7.561

Review 3.  IL-1 Family Cytokines in Inflammatory Dermatoses: Pathogenetic Role and Potential Therapeutic Implications.

Authors:  Helena Iznardo; Luís Puig
Journal:  Int J Mol Sci       Date:  2022-08-22       Impact factor: 6.208
  3 in total

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