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https://www.readbyqxmd.com/read/28747603/autoinflammatory-diseases-in-dermatology-ditra-and-camps
#1
Kazumitsu Sugiura
  Deficiency of interleukin thirty-six receptor antagonist (DITRA) and CARD14 mediated psoriasis (CAMPS) are autoinflammatory diseases in dermatology. The causative genes of DITRA and CMAPS have been identified recently. In this paper, IL36RN and CARD14, the causative gene for DITRA and CAMPS, respectively were explained. In addition, clinical features and therapies for generalized pustular psoriasis not associated with psoriasis vulgaris (GPP without PsV), and pityriasis rubra pilaris type V (PRP type V) were described...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28726542/generation-and-functional-characterization-of-anti-human-and-anti-mouse-il-36r-antagonist-monoclonal-antibodies
#2
Rajkumar Ganesan, Ernest L Raymond, Detlev Mennerich, Joseph R Woska, Gary Caviness, Christine Grimaldi, Jennifer Ahlberg, Rocio Perez, Simon Roberts, Danlin Yang, Kavita Jerath, Kristopher Truncali, Lee Frego, Eliud Sepulveda, Priyanka Gupta, Su-Ellen Brown, Michael D Howell, Keith A Canada, Rachel Kroe-Barrett, Jay S Fine, Sanjaya Singh, M Lamine Mbow
Deficiency of interleukin (IL)-36 receptor antagonist (DITRA) syndrome is a rare autosomal recessive disease caused by mutations in IL36RN. IL-36R is a cell surface receptor and a member of the IL1R family that is involved in inflammatory responses triggered in skin and other epithelial tissues. Accumulating evidence suggests that IL-36R signaling may play a role in the pathogenesis of psoriasis. Therapeutic intervention of IL-36R signaling offers an innovative treatment paradigm for targeting epithelial cell-mediated inflammatory diseases such as the life-threatening psoriasis variant called generalized pustular psoriasis (GPP)...
July 20, 2017: MAbs
https://www.readbyqxmd.com/read/28603914/mutation-in-il36rn-impairs-the-processing-and-regulatory-function-of-the-interleukin-36-receptor-antagonist-and-is-associated-with-ditra-syndrome
#3
Elodie Bal, Ai Ching Lim, Min Shen, Jason Douangpanya, Marine Madrange, Rihab Gazah, Marie Tauber, Walid Beghdadi, Jean Laurent Casanova, Emmanuelle Bourrat, Hervé Bachelez, Jennifer E Towne, Asma Smahi
No abstract text is available yet for this article.
June 11, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28369922/granulocyte-and-monocyte-apheresis-can-control-juvenile-generalised-pustular-psoriasis-with-mutation-of-the-il36rn-gene
#4
Y Koike, M Okubo, T Kiyohara, R Fukuchi, Y Sato, S Kuwatsuka, T Takeichi, M Akiyama, K Sugiura, A Utani
Patients with 'deficiency of the interleukin-36 receptor antagonist' (DITRA), caused by mutation of the IL36RN gene, exhibit psoriatic phenotypes, typically generalised pustular psoriasis (GPP). We report a paediatric case with DITRA, whose cutaneous lesions varied from psoriasis vulgaris in infancy to annular pustular psoriasis with acute exacerbation to GPP at 13 years of age. Conventional systemic treatments for GPP, which include oral retinoids, cyclosporine and methotrexate, are controversial in paediatric cases, because of their adverse effects and uncertain long-time consequences...
March 30, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28196704/toll-like-receptor-4-antagonist-tak-242-inhibits-autoinflammatory-symptoms-in-ditra
#5
Akitaka Shibata, Kazumitsu Sugiura, Yasuhide Furuta, Yoshiko Mukumoto, Osamu Kaminuma, Masashi Akiyama
BACKGROUND: IL36RN encodes the IL-36 receptor antagonist (IL-36Ra), and loss-of-function mutations in IL36RN define a recessively inherited autoinflammatory disease named "deficiency of IL-36Ra" (DITRA). DITRA causes systemic autoinflammatory diseases, including generalized pustular psoriasis (GPP), an occasionally life-threatening disease that is characterized by widespread sterile pustules on the skin, fever and other systemic symptoms. GPP can present at any age, and provocative factors include various infections, medicines and pregnancy...
February 11, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/27760239/response-to-interleukin-il-17-inhibition-in-an-adolescent-with-severe-manifestations-of-il-36-receptor-antagonist-deficiency-ditra
#6
Kelly M Cordoro, Derya Ucmak, Maria Hitraya-Low, Michael D Rosenblum, Wilson Liao
No abstract text is available yet for this article.
January 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/27755121/vasculitis-in-the-autoinflammatory-diseases
#7
REVIEW
Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
January 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27220475/il36rn-mutations-affect-protein-expression%C3%A2-and-function-a-basis-for-genotype-phenotype-correlation-in-pustular-diseases
#8
REVIEW
Marie Tauber, Elodie Bal, Xue-Yuan Pei, Marine Madrange, Amel Khelil, Houria Sahel, Akila Zenati, Mohamed Makrelouf, Khaled Boubridaa, Amel Chiali, Naima Smahi, Farida Otsmane, Bakar Bouajar, Slaheddine Marrakchi, Hamida Turki, Emmanuelle Bourrat, Manuelle Viguier, Yamina Hamel, Hervé Bachelez, Asma Smahi
Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/p.Gly141MetfsX29) in patients with familial generalized pustular psoriasis. We analyzed the impact of a spectrum of IL36RN mutations on IL-36 receptor antagonist protein by using site-directed mutagenesis and expression in HEK293T cells...
September 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/25848350/a-case-of-old-age-onset-generalized-pustular-psoriasis-with-a-deficiency-of-il-36rn-ditra-treated-by-granulocyte-and-monocyte-apheresis
#9
Chiharu Tominaga, Masaaki Yamamoto, Yasutomo Imai, Kiyofumi Yamanishi
A 78-year-old woman who had been suffering from psoriasis vulgaris for 31 years was admitted to hospital because of her erythroderma. A toxic eruption was suspected and she was treated with prednisolone 30 mg daily. However, it was ineffective and, suspecting psoriatic erythroderma, cyclosporine 150 mg daily was administered with tapering of the prednisolone. Two weeks after a dose reduction of cyclosporine to 100 mg/day, erythroderma with widespread generalized pustules and fever developed. Histology of a biopsy revealed inflammatory infiltrates in the skin with a spongiform pustule of Kogoj, which was consistent with generalized pustular psoriasis (GPP)...
January 2015: Case Reports in Dermatology
https://www.readbyqxmd.com/read/24898045/il36rn-mutation-causing-generalized-pustular-psoriasis-in-a-palestinian-patient
#10
Yael Renert-Yuval, Liran Horev, Sofia Babay, Spiro Tams, Yuval Ramot, Abraham Zlotogorski, Vered Molho-Pessach
Deficiency of interleukin-36 (IL-36) receptor antagonist (DITRA; OMIM 614204) is a rare autoinflammatory disorder characterized by periodic fever associated with a generalized erythematous and pustular skin rash. A 6-year-old Arab-Palestinian boy presented with a history of periodic fever and unremitting, erythematous, scaly skin rash accompanied by widespread pustules that had been present since the age of one month. The patient's skin lesions were compatible with generalized pustular psoriasis. Sequence analysis revealed a homozygous nonsense mutation, c...
July 2014: International Journal of Dermatology
https://www.readbyqxmd.com/read/24019411/first-clinical-description-of-an-infant-with-interleukin-36-receptor-antagonist-deficiency-successfully-treated-with-anakinra
#11
Linda Rossi-Semerano, Maryam Piram, Christine Chiaverini, Dominique De Ricaud, Asma Smahi, Isabelle Koné-Paut
YM is the first son of Tunisian consanguineous parents who developed, at 2 weeks of life, an erythematous and scaly eruption, with subsequent rapid evolution toward generalized pustular psoriasis. Afterward, cutaneous flares of diffuse erythematous rash and pustules involving the whole body appeared, with a once weekly periodicity. Intense irritability was present during flares without fever. Moreover, since 1 month of age the infant presented with diarrhea, dysphagia, and reduced feeding rate, with failure to thrive...
October 2013: Pediatrics
https://www.readbyqxmd.com/read/23711932/monogenic-autoinflammatory-diseases-concept-and-clinical-manifestations
#12
REVIEW
Adriana Almeida de Jesus, Raphaela Goldbach-Mansky
The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3...
June 2013: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/23428889/acrodermatitis-continua-of-hallopeau-is-a-clinical-phenotype-of-ditra-evidence-that-it-is-a-variant-of-pustular-psoriasis
#13
Ossama Abbas, Salam Itani, Samer Ghosn, Abdul Ghani Kibbi, Georges Fidawi, Muhammad Farooq, Yutaka Shimomura, Mazen Kurban
Acrodermatitis continua of Hallopeau (ACH) is a rare, chronic, sterile, pustular eruption that predominantly affects the fingertips with nail involvement. While some consider ACH a distinct entity, many believe it to be a variant of pustular psoriasis, especially as cases of ACH progressing to generalized pustular psoriasis (GPP) have been reported. Recently, recessively inherited mutations in the IL36RN gene, which encodes interleukin-36 receptor antagonist (IL-36Ra), have been demonstrated to be the cause of familial GPP, a condition termed DITRA (deficiency of IL-36Ra)...
2013: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/22431779/dira-ditra-and-new-insights-into-pathways-of-skin-inflammation-what-s-in-a-name
#14
EDITORIAL
Edward W Cowen, Raphaela Goldbach-Mansky
No abstract text is available yet for this article.
March 2012: Archives of Dermatology
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