Výsledky vyhledávání

NOD2 gene–associated pediatric granulomatous arthritis: Clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort

Autor: Eduardo Ramos, Josefa Rius, Jordi Yagüe, Rosa Merino, María Antonia Carballo, Pilar de Paz, Julia García-Consuegra, Cristina Arnal, Antonio Naranjo, Juan I. Aróstegui, Consuelo Modesto, S Plaza, Purificación Moreno

Publikováno v: Arthritis & Rheumatism. 56:3805-3813

Objective Blau syndrome and early-onset sarcoidosis are NOD2 gene–associated chronic autoinflammatory diseases characterized by skin rash, arthritis, and/or eye involvement, with noncaseating granulomata as their pathologic hallmark. This study was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b803946ae2b7fe5323b0bbae34474ec1
https://doi.org/10.1002/art.22966

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Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response

Autor: S Plaza, Samuel Gómez, Anna Aldea, Jordi Yagüe, Pilar Bahillo, Jordi Vives, Pilar Solís, Josefa Rius, Juan I. Aróstegui, Teresa Cantero

Publikováno v: European Journal of Pediatrics. 164:13-16

We investigated the cause of hereditary periodic fever syndrome in a Spanish child with recurrent long episodes of fever, migratory skin rash, myalgia, arthralgia, conjunctivitis and abdominal pain. Infectious and autoimmune causes were ruled out. No

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d5ae6fe9508d049fca5d20e134cfe0
https://doi.org/10.1007/s00431-004-1563-1

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Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with theCIAS1/PYPAF1/NALP3gene

Autor: Maria Jesús Rua, Eduardo Ramos, Jordi Yagüe, María Antonia González-Enseñat, Jordi Vives, Juan I. Aróstegui, Consuelo Modesto, Federico Arguelles, S Plaza, Anna Aldea, Josefa Rius

Publikováno v: Arthritis & Rheumatism. 50:4045-4050

Objective To investigate the involvement of the CIAS1/PYPAF1/NALP3 gene in 7 unrelated Spanish families with recurrent autoinflammatory diseases characterized by early onset, recurrent fever, and a chronic urticarial rash, in whom a clinical diagnosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78fcaa6a885c505143994bb47d4bbab9
https://doi.org/10.1002/art.20633

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A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated periodic

Autor: Josep M. Campistol, Jordi Yagüe, Juan I. Aróstegui, Josefa Rius, Anna Aldea, Montserrat Masó, Jordi Vives

Publikováno v: American Journal of Medical Genetics Part A. :67-73

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The MEFV gene,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54fcb503f7cbf8cf7efdd17ec5986421
https://doi.org/10.1002/ajmg.a.20296

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An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism

Autor: Josefa Rius, Jordi Yagüe, Mercedes Alperi, Juan I. Aróstegui, Raimon Sanmartí, Conchita Moll, Juan D. Cañete, Marta Larrosa, Jordi Gratacós, Rubén Queiro, M. Victoria Hernández

Publikováno v: Arthritis and rheumatism. 56(8)

Objective To investigate whether the MEFV gene, which is involved in the regulation of the inflammatory response and has been associated with familial Mediterranean fever (FMF) and intermittent hydrarthrosis, is implicated in the pathogenesis of pali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297f7344016eaf3c670f65b5a99c52a6
https://pubmed.ncbi.nlm.nih.gov/18512803

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Effect of NOD2/CARD15 variants in T-cell depleted allogeneic stem cell transplantation

Autor: Miquel, Granell, Alvaro, Urbano-Ispizua, Juan Ignacio, Aróstegui, Francesc, Fernández-Avilés, Carmen, Martínez, Montserrat, Rovira, Josefa, Rius, Susana, Plaza, Anna, Gaya, Alfons, Navarro, Carme, Talarn, Enric, Carreras, Mariano, Monzó, Emili, Montserrat, Jordi, Yagüe

Publikováno v: Haematologica. 91(10)

Three single nucleotide polymorphisms (SNP) in the NOD2/CARD15 gene have been associated with the incidence and the severity of acute graft-versus-host disease (GVHD) following allogeneic stem cell transplantation (SCT). We hypothesized that the clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::faed849a4a1fda03811d08315354c171
https://pubmed.ncbi.nlm.nih.gov/17018387

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The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus

Autor: Anna, Aldea, Francesc, Calafell, Juan I, Aróstegui, Oscar, Lao, Josefa, Rius, Susana, Plaza, Montserrat, Masó, Jordi, Vives, Joan, Buades, Jordi, Yagüe

Publikováno v: Human mutation. 23(4)

Mutations at the MEFV gene cause, with various degrees of penetrance, familial Mediterranean fever (FMF). This disease is more prevalent in the Middle East than elsewhere, and most studies have focused on those populations. However, FMF occurs also i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d10d90cb138e8a807f60426cfdbe799f
https://pubmed.ncbi.nlm.nih.gov/15024744

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The west side story:MEFVhaplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at theMEFVlocus

Autor: Joan Buades, Juan I. Aróstegui, Anna Aldea, Montserrat Masó, Josefa Rius, Jordi Yagüe, Jordi Vives, Francesc Calafell, Oscar Lao, S Plaza

Publikováno v: Human Mutation. 23:399-399

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::72b9b80b8836bf85d4a66642de350833
https://doi.org/10.1002/humu.9229

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