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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
#1
Kelly M Cordoro, Derya Ucmak, Maria Hitraya-Low, Michael D Rosenblum, Wilson Liao
No abstract text is available yet for this article.
October 19, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27755121/vasculitis-in-the-autoinflammatory-diseases
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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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