Works matching AU Aróstegui, Juan I.

Results: 33

Hidradenitis Suppurativa: Proposal of Classification in Two Endotypes with Two-Step Cluster Analysis.

Published in:

2021

By:

González-Manso, Anxo;
Agut-Busquet, Eugènia;
Romaní, Jorge;
Vilarrasa, Eva;
Bittencourt, Flavia;
Mensa, Anna;
Cantó, Elisabeth;
Aróstegui, Juan I.;
Vidal, Silvia;
Aróstegui, Juan I

Publication type:

journal article

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.

Published in:

2005

By:

Aróstegui, Juan I.;
Solís, Pilar;
Aldea, Anna;
Cantero, Teresa;
Rius, Josefa;
Bahíllo, Pilar;
Plaza, Susana;
Vives, Jordi;
Gómez, Samuel;
Yagüe, Jordi;
Aróstegui, Juan I;
Solís, Pilar;
Bahíllo, Pilar;
Gómez, Samuel;
Yagüe, Jordi

Publication type:

journal article

IL-12 Rβ1 Deficiency: Mutation Update and Description of the IL12 RB1 Variation Database.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1329, doi. 10.1002/humu.22380

By:

Vosse, Esther;
Haverkamp, Margje H.;
Ramirez‐Alejo, Noe;
Martinez‐Gallo, Mónica;
Blancas‐Galicia, Lizbeth;
Metin, Ayşe;
Garty, Ben Zion;
Sun‐Tan, Çağman;
Broides, Arnon;
Paus, Roelof A.;
Keskin, Özlem;
Çağdaş, Deniz;
Tezcan, Ilhan;
Lopez‐Ruzafa, Encarna;
Aróstegui, Juan I.;
Levy, Jacov;
Espinosa‐Rosales, Francisco J.;
Sanal, Özden;
Santos‐Argumedo, Leopoldo;
Casanova, Jean‐Laurent

Publication type:

Article

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.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9229

By:

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

Publication type:

Article

I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

Published in:

Human Mutation, 2002, v. 20, n. 2, p. 148, doi. 10.1002/humu.10103

By:

Aldea, Anna;
Casademont, Jordi;
Aróstegui, Juan I.;
Rius, Josefa;
Masó, Montserrat;
Vives, Jordi;
Yagüe, Jordi

Publication type:

Article

Clues to management of neonatally diagnosed BTK deficiency.

Published in:

Pediatric Allergy & Immunology, 2016, v. 27, n. 4, p. 428, doi. 10.1111/pai.12549

By:

Deyà‐Martínez, Angela;
Esteve‐Sole, Ana;
Giner, Maria Teresa;
Aróstegui, Juan I.;
Ruiz‐Ortiz, Estíbaliz;
Yagüe, Jordi;
Juan, Manel;
Plaza, Ana Maria;
Alsina, Laia

Publication type:

Article

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

Published in:

Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3035, doi. 10.1002/art.39770

By:

Mensa‐Vilaro, Anna;
Teresa Bosque, María;
Magri, Giuliana;
Honda, Yoshitaka;
Martínez‐Banaclocha, Helios;
Casorran‐Berges, Marta;
Sintes, Jordi;
González‐Roca, Eva;
Ruiz‐Ortiz, Estibaliz;
Heike, Toshio;
Martínez‐Garcia, Juan J.;
Baroja‐Mazo, Alberto;
Cerutti, Andrea;
Nishikomori, Ryuta;
Yagüe, Jordi;
Pelegrín, Pablo;
Delgado‐Beltran, Concha;
Aróstegui, Juan I.

Publication type:

Article

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.

Published in:

Arthritis & Rheumatology, 2016, v. 68, n. 8, p. 2044, doi. 10.1002/art.39683

By:

Rowczenio, Dorota M.;
Trojer, Hadija;
Omoyinmi, Ebun;
Aróstegui, Juan I.;
Arakelov, Grigor;
Mensa‐Vilaro, Anna;
Baginska, Anna;
Silva Pilorz, Caroline;
Wang, Guosu;
Lane, Thirusha;
Brogan, Paul;
Hawkins, Philip N.;
Lachmann, Helen J.

Publication type:

Article

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

Published in:

Arthritis & Rheumatology, 2016, v. 68, n. 4, p. 1039, doi. 10.1002/art.39519

By:

Mensa‐Vilaro, Anna;
Tarng Cham, Weng;
Ping Tang, Swee;
Chin Lim, Sern;
González‐Roca, Eva;
Ruiz‐Ortiz, Estibaliz;
Ariffin, Roziana;
Yagüe, Jordi;
Aróstegui, Juan I.

Publication type:

Article

Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome.

Published in:

Arthritis & Rheumatology, 2014, v. 66, n. 1, p. 197, doi. 10.1002/art.38217

By:

Omoyinmi, Ebun;
Melo Gomes, Sónia;
Standing, Ariane;
Rowczenio, Dorota M.;
Eleftheriou, Despina;
Klein, Nigel;
Aróstegui, Juan I.;
Lachmann, Helen J.;
Hawkins, Philip N.;
Brogan, Paul A.

Publication type:

Article

Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders.

Published in:

2021

By:

Solís-Moruno, Manuel;
Mensa-Vilaró, Anna;
Batlle-Masó, Laura;
Lobón, Irene;
Bonet, Núria;
Marquès-Bonet, Tomàs;
Aróstegui, Juan I.;
Casals, Ferran

Publication type:

Correction Notice

Assessment of the gene mosaicism burden in blood and its implications for immune disorders.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92381-y

By:

Solís-Moruno, Manuel;
Mensa-Vilaró, Anna;
Batlle-Masó, Laura;
Lobón, Irene;
Bonet, Núria;
Marquès-Bonet, Tomàs;
Aróstegui, Juan I.;
Casals, Ferran

Publication type:

Article

Baseline correlations and prognostic impact of serum monoclonal proteins in follicular lymphoma.

Published in:

British Journal of Haematology, 2021, v. 193, n. 2, p. 299, doi. 10.1111/bjh.17138

By:

Mozas, Pablo;
Rivero, Andrea;
Rivas‐Delgado, Alfredo;
Fabregat, Aleix;
Piñeyroa, Juan A.;
Correa, Juan G.;
Nadeu, Ferran;
Oliver, Aina;
Bataller, Alex;
Giné, Eva;
Delgado, Julio;
Villamor, Neus;
Cibeira, Maria T.;
Fernández de Larrea, Carlos;
Rosiñol, Laura;
Campo, Elías;
Aróstegui, Juan I.;
Bladé, Joan;
Magnano, Laura;
López‐Guillermo, Armando

Publication type:

Article

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.

Published in:

Pediatric Blood & Cancer, 2013, v. 60, n. 7, p. E29, doi. 10.1002/pbc.24499

By:

Estévez, Orlando A.;
Ortega, Consuelo;
Tejero, Ángeles;
Fernández, Silvia;
Aguado, Rocío;
Aróstegui, Juan I.;
González‐Roca, Eva;
Peña, José;
Santamaría, Manuel

Publication type:

Article

A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.

Published in:

Rheumatology International, 2008, v. 28, n. 4, p. 379, doi. 10.1007/s00296-007-0432-4

By:

Gunduz, Zubeyde;
Dursun, Ismail;
Aróstegui, Juan I.;
Yagüe, Jordi;
Dusunsel, Ruhan;
Poyrazoglu, Hakan M.;
Kaya Gurgoze, Metin;
Yıkılmaz, Ali

Publication type:

Article

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism--UK Single Center Experience.

Published in:

Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01410

By:

Rowczenio, Dorota M.;
Gomes, Sónia Melo;
Aróstegui, Juan I.;
Mensa-Vilaro, Anna;
Omoyinmi, Ebun;
Trojer, Hadija;
Baginska, Anna;
Baroja-Mazo, Alberto;
Pelegrin, Pablo;
Savic, Sinisa;
Lane, Thirusha;
Williams, Rene;
Brogan, Paul;
Lachmann, Helen J.;
Hawkins, Philip N.

Publication type:

Article

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 6, p. 753, doi. 10.1080/13816810.2021.1946701

By:

Rodrigues, Filipa G;
Petrushkin, Harry;
Webster, Andrew R;
Bickerstaff, Maria;
Moraitis, Elena;
Rowczenio, Dorota;
Aróstegui, Juan I.;
Westcott, Mark

Publication type:

Article

Impact of Evolving Pattern in Early Progression of Patients With Smoldering Multiple Myeloma.

Published in:

Clinical Lymphoma, Myeloma & Leukemia, 2017, v. 17, p. e23, doi. 10.1016/j.clml.2017.03.040

By:

Fernández de Larrea, Carlos;
Isola, Ignacio;
Pereira, Arturo;
Rosiñol, Laura;
Cibeira, M a Teresa;
Calvo, Xavier;
Magnano, Laura;
Aróstegui, Juan I.;
Rozman, María;
Yagüe, Jordi;
Blade, Joan

Publication type:

Article

Prognostic Impact of Serum Heavy/Light Chain Pairs in Patients With Monoclonal Gammopathy of Undetermined Significance and Smoldering Myeloma: Long-Term Results From a Single Institution.

Published in:

2016

By:

Magnano, Laura;
Fernández de Larrea, Carlos;
Elena, Montserrat;
Cibeira, María Teresa;
Tovar, Natalia;
Aróstegui, Juan I.;
Pedrosa, Fabiola;
Rosiñol, Laura;
Filella, Xavier;
Yagüe, Jordi;
Bladé, Joan

Publication type:

journal article

Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. e212, doi. 10.1093/brain/awr358

By:

Sánchez-Valle, Raquel;
Yagüe, Jordi;
Turón, Antoni;
Aróstegui, Juan I.;
Nos, Carlos;
Rey, MªJesús;
Ferrer, Isidro;
Gelpi, Ellen

Publication type:

Article

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.

Published in:

Amyloid, 2023, v. 30, n. 2, p. 199, doi. 10.1080/13506129.2022.2142110

By:

de Frutos, Fernando;
Ochoa, Juan Pablo;
Gómez-González, Cristina;
Reyes-Leiva, David;
Aróstegui, Juan I.;
Casasnovas, Carlos;
Barriales-Villa, Roberto;
Sevilla, Teresa;
Gonzalez-Lopez, Esther;
Ramil, Elvira;
Galan, Lucia;
González-Costello, Jose;
García-Álvarez, Ana;
Rojas-Garcia, Ricard;
Espinosa, Maria Angeles;
Garcia-Pavia, Pablo

Publication type:

Article

Prognostic impact of immunoparesis at diagnosis and after treatment onset in patients with light-chain amyloidosis.

Published in:

Amyloid, 2017, v. 24, n. 4, p. 245, doi. 10.1080/13506129.2017.1390451

By:

Rodríguez-Lobato, Luis Gerardo;
Fernández de Larrea, Carlos;
Cibeira, Maria Teresa;
Tovar, Natalia;
Isola, Ignacio;
Aróstegui, Juan I.;
Rosiñol, Laura;
Díaz, Tania;
Lozano, Ester;
Yagüe, Jordi;
Bladé, Joan

Publication type:

Article

Familial Mediterranean fever in the pediatric population.

Published in:

Allergologia & Immunopathologia, 2022, v. 50, n. 1, p. 25, doi. 10.15586/aei.v50i1.446

By:

Llobet-Agulló, Pilar;
Sanromà-Nogués, Laura;
Salguero-Pérez, Isabel Maria;
Aróstegui, Juan I.;
Corral-Arboledas, Sonia;
Coll-Sibina, Maria Teresa;
Masiques-Mas, Lluïsa

Publication type:

Article

First Description of Late‐Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

Published in:

Arthritis & Rheumatology, 2022, v. 74, n. 4, p. 692, doi. 10.1002/art.41999

By:

Ionescu, Daniela;
Peñín‐Franch, Alejandro;
Mensa‐Vilaró, Anna;
Castillo, Paola;
Hurtado‐Navarro, Laura;
Molina‐López, Cristina;
Romero‐Chala, Silvia;
Plaza, Susana;
Fabregat, Virginia;
Buján, Segundo;
Marques, Joana;
Casals, Ferran;
Yagüe, Jordi;
Oliva, Baldomero;
Fernández‐Pereira, Luis Miguel;
Pelegrín, Pablo;
Aróstegui, Juan I.

Publication type:

Article

Early‐onset recurrent panniculitis as a phenotype of NLRC4‐associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445ProNLRC4 variant.

Published in:

Australasian Journal of Dermatology, 2023, v. 64, n. 2, p. 260, doi. 10.1111/ajd.14005

By:

Gil‐Lianes, Javier;
Gariup, Giuseppe;
Iranzo‐Fernández, Pilar;
Mensa‐Vilaró, Anna;
Peñín‐Franch, Alejandro;
Hurtado‐Navarro, Laura;
Pelegrin, Pablo;
Aróstegui, Juan I.

Publication type:

Article

Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre.

Published in:

Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1071, doi. 10.2340/00015555-3292

By:

DEZA, Gustavo;
MENSA-VILARÓ, Anna;
MARCH-RODRIGUEZ, Alvaro;
SÁNCHEZ, Silvia;
PUJOL, Ramon M.;
ARÓSTEGUI, Juan I.;
GIMÉNEZ-ARNAU, Ana M.

Publication type:

Article

Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Published in:

2022

By:

Reula, Alfonso José Tapiz i;
Cochino, Alexis-Virgil;
Martins, Andreia L.;
Angosto-Bazarra, Diego;
de Landazuri, Iñaki Ortiz;
Mensa-Vilaro, Anna;
Cabral, Marta;
Baroja-Mazo, Alberto;
Baños, María C.;
Lobato-Salinas, Zulema;
Fabregat, Virginia;
Plaza, Susana;
Yagüe, Jordi;
Casals, Ferran;
Oliva, Baldomero;
Figueiredo, Antonio E.;
Pelegrín, Pablo;
Aróstegui, Juan I.

Publication type:

Correction Notice

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1421, doi. 10.1007/s10875-022-01298-2

By:

Tapiz i Reula, Alfonso José;
Cochino, Alexis-Virgil;
Martins, Andreia L.;
Angosto-Bazarra, Diego;
de Landazuri, Iñaki Ortiz;
Mensa-Vilaró, Anna;
Cabral, Marta;
Baroja-Mazo, Alberto;
Baños, María C.;
Lobato-Salinas, Zulema;
Fabregat, Virginia;
Plaza, Susana;
Yagüe, Jordi;
Casals, Ferran;
Oliva, Baldomero;
Figueiredo, Antonio E.;
Pelegrín, Pablo;
Aróstegui, Juan I.

Publication type:

Article

Comment on: Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3: Reply.

Published in:

2023

By:

Weber, Alexander N R;
Tapia-Abellán, Ana;
Liu, Xiao;
Aróstegui, Juan I;
Pelegrín, Pablo;
Welzel, Tatjana;
Kuemmerle-Deschner, Jasmin B

Publication type:

Letter to the Editor

Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3.

Published in:

Rheumatology, 2022, v. 61, n. 10, p. e299, doi. 10.1093/rheumatology/keac273

By:

Weber, Alexander N R;
Tapia-Abellán, Ana;
Liu, Xiao;
Dickhöfer, Sabine;
Aróstegui, Juan I;
Pelegrín, Pablo;
Welzel, Tatjana;
Kuemmerle-Deschner, Jasmin B

Publication type:

Article

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.

Published in:

2014

By:

Alejandre, Nicolás;
Ruiz-Palacios, Ana;
García-Aparicio, Angel M.;
Blanco-Kelly, Fiona;
Bermúdez, Sandra;
Fernández-Sanz, Guillermo;
Romero, Fredeswinda I.;
Aróstegui, Juan I.;
Ayuso, Carmen;
Jiménez-Alfaro, Ignacio;
Herrero-Beaumont, Gabriel;
Sánchez-Pernaute, Olga

Publication type:

Journal Article

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.

Published in:

Rheumatology, 2014, v. 53, n. 6, p. 1095, doi. 10.1093/rheumatology/ket486

By:

Alejandre, Nicolás;
Ruiz-Palacios, Ana;
García-Aparicio, Angel M.;
Blanco-Kelly, Fiona;
Bermúdez, Sandra;
Fernández-Sanz, Guillermo;
Romero, Fredeswinda I.;
Aróstegui, Juan I.;
Ayuso, Carmen;
Jiménez-Alfaro, Ignacio;
Herrero-Beaumont, Gabriel;
Sánchez-Pernaute, Olga

Publication type:

Article

Pro-B acute lymphoblastic leukemia in a patient with severe congenital neutropenia: an unusual form of malignant evolution.

Published in:

2013

By:

Juncà, Jordi;
Millá, Fuensanta;
Xicoy, Blanca;
García-Caro, Montse;
Rodríguez-Hernández, Inés;
Aróstegui, Juan I.

Publication type:

Letter