Zobrazeno 1 - 10 of 506 pro vyhledávání: '"Oscar De La Calle-Martin"'
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Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
Autor: Laia Alsina, José Carlos Rodríguez-Gallego, Pere Soler-Palacín, Weng Tarng Cham, Enrique Gómez de la Fuente, Rebeca Rodríguez-Pena, Jordi Yagüe, Luis Ignacio Gonzalez-Granado, José M. Morales, Osvaldo M. Mutchinick, Roger Colobran, Luz Yadira Bravo Gallego, Angélica Balderrama-Rodríguez, Alejandro Souto, Pablo Mesa-del-Castillo, María Bravo García-Morato, Kieron S. Leslie, Consuelo Modesto, Juan I. Aróstegui, Naouel Guirat Dhouib, María Teresa Martínez-Saavedra, Carine Wouters, Catalina Mosquera, Marketa Bloomfield, María Teresa Bosque, Maria Teresa Terreri, Daniel Clemente, Jeronima Cañellas, Natalia Palmou, Eva González-Roca, Josep M. Campistol, Lívia Almeida Dutra, Cecilia Gonzalez-Santesteban, Eduardo Ramos, Eduardo López-Granados, Ferran Casals, Norberto Ortego-Centeno, Jose Luis Fuster, Luis M. Allende, Jaime de Inocencio, Mohamed Bejaoui, Laura Martínez-Martínez, Clara Franco-Jarava, Anna Mensa-Vilaro, Santiago Jimenez-Treviño, Rebeca Pérez de Diego, Oscar de la Calle-Martin, Agustin Remesal, Tatiana González, Natalia Martínez-Pomar
Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
BACKGROUND: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations. Mosaicism has been rep
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5148ee8b2b5d7f2956f8f0da6cb396e7
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15122
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3
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis
Autor: Oscar de la Calle-Martin, Laura Martínez-Martínez, Carlos Rodríguez-Gallego, Pablo Fuentes-Prior, Isabel Badell, Maria Victoria Rubiales, Judith Noda, María Teresa Martínez-Saavedra, Maria A. Barnadas
Publikováno v: Molecular Immunology. 68:597-605
Gain-of-function STAT1 mutations have recently been associated with autosomal dominant chronic mucocutaneous candidiasis (CMC). The purpose of this study was to characterize the three members of a non-consanguineous family, the father and his two son
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4cb204a12696f2d5bdedbe288f79f74
https://doi.org/10.1016/j.molimm.2015.09.014
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4
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15
Autor: Ma. Cinta Lleixà, Julio Pardo, Luana Benedetti, Alicia Martínez-Piñeiro, Yusuf A. Rajabally, Alejandra Carvajal, Jordi Díaz-Manera, Guiseppe Lauria, Emilien Delmont, Luis Querol, Enrico Marchioni, Diego Franciotta, Ana M. Siles, Isabel Illa, Laura Martínez-Martínez, Jérôme Devaux, Gemma Boera-Carnicero, Shahram Attarian, Ilaria Callegari, Oscar de la Calle Martin, Cándido Juárez, Andrea Cortese
Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Journal of Neuroinflammation, Vol 14, Iss 1, Pp 1-6 (2017)
Journal of Neuroinflammation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Background The aim of the research is to study the human leukocyte antigen (HLA) class II allele frequencies in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with anti-neurofascin 155 (NF155) antibodies. Methods Thirteen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c737363521fdf7dc61ce951ed10663
https://hdl.handle.net/10668/11806
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7
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family
Autor: Asunción Vicente, Isabel Badell, Andrea Martín-Nalda, Laia Alsina, Ana M. Plaza, Cecilia Gonzalez-Santesteban, Laura Martínez-Martínez, Marta Vazquez-Ortiz, Oscar de la Calle-Martin
Publikováno v: Pediatric Allergy and Immunology. 23:660-666
Background: Mutations in RAG genes cause a spectrum of severe immunodeficiencies ranging from Severe Combined Immunodeficiency (SCID) T-B-NK+ to Omenn syndrome (OS) through intermediate phenotypes, even for the same alteration. Nowadays, hematopoieti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ba0d5b4f769cb4fb8a24933347a89929
https://doi.org/10.1111/j.1399-3038.2012.01339.x
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8
Non-myeloablative hematopoietic stem cell transplantation in the treatment of severe idiopathic CD4+ lymphocytopenia
Autor: José M. Miró, M. Plana, Montserrat Rovira, Antonio Martinez, Oscar de la Calle-Martin, Francesc Fernández-Avilés, Enric Carreras, Carlos Cervera, Xavier Bosch, Joan Bladé, Felipe García, Asunción Moreno, Teresa Gallart, José M. Gatell
Publikováno v: European Journal of Haematology. 87:87-91
A 40-year-old man with severe chronic idiopathic CD4+ lymphocytopenia complicated with opportunistic infections was successfully treated with non-myeloablative allogeneic hematopoietic stem cell transplantation. After conditioning with fludarabine pl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::95deef01be07d867d266cda13bc5be60
https://doi.org/10.1111/j.1600-0609.2011.01619.x
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9
Cost-effectiveness analysis of HLA-B*5701 typing in the prevention of hypersensitivity to abacavir in HIV+ patients in Spain
Autor: Laura García-Bujalance, Diana Nieves Calatrava, Antonio Rivero-Román, Isabel Pérez-Escolano, Oscar de la Calle-Martin, José A. Iribarren-Loyarte, Max Brosa-Riestra
Publikováno v: Enfermedades Infecciosas y Microbiología Clínica. 28:590-595
Introduction Approximately 4% to 8% of patients with HIV-1 treated with abacavir present a hypersensitivity reaction (HSR). Various studies have shown a direct association between human leukocyte antigen (HLA)-B*5701 and HSR to abacavir. The objectiv
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772f4c9a34ae74631784618bc25acc52
https://doi.org/10.1016/j.eimc.2009.09.010
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10
Familial CD8 deficiency due to a mutation in the CD8α gene
Autor: Natalia Casamitjana, Oscar de la Calle-Martin, Jose L. Rodriguez-Sanchez, I. Caragol, Juan I. Aróstegui, Monserrat Ferrando, Jose Ordi, Moises Labrador, Teresa Espanol, M. Hernández
Publikováno v: Europe PubMed Central
CD8 glycoproteins play an important role in both the maturation and function of MHC class I-restricted T lymphocytes. A 25-year-old man, from a consanguineous family, with recurrent bacterial infections and total absence of CD8(+) cells, was studied.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87207d7f25c18ae308535b093181c020
https://doi.org/10.1172/jci10993
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