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Page 1
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero E, Goycochea-Valdivia W, Mendez-Echevarria A, Allende LM, Alsina L, Bravo García-Morato M, Gil-Herrera J, Gudiol C, Len-Abad O, López-Medrano F, Moreno-Pérez D, Muñoz P, Olbrich P, Sánchez-Ramón S, Soler-Palacín P, Aguilera Cros C, Arostegui JI, Badell Serra I, Carbone J, Fortún J, Gonzalez-Granado LI, López-Granados E, Lucena JM, Parody R, Ramakers J, Regueiro JR, Rivière JG, Roca-Oporto C, Rodríguez Pena R, Santos-Pérez JL, Rodríguez-Gallego C, Neth O. Cordero E, et al. Among authors: arostegui ji. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3342-3347. doi: 10.1016/j.jaip.2020.05.008. J Allergy Clin Immunol Pract. 2020. PMID: 33161963
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L, González-Roca E, Giner MT, Piquer M, Puga I, Pascal M, Ruiz-Ortiz E, Badell I, Martín-Mateos MA, Cerutti A, Juan M, Yagüe J, Plaza AM, Aróstegui JI. Alsina L, et al. Among authors: arostegui ji. J Allergy Clin Immunol. 2013 Sep;132(3):741-743.e2. doi: 10.1016/j.jaci.2013.03.038. Epub 2013 May 15. J Allergy Clin Immunol. 2013. PMID: 23683512 No abstract available.
IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.
Hussain S, Berki DM, Choon SE, Burden AD, Allen MH, Arostegui JI, Chaves A, Duckworth M, Irvine AD, Mockenhaupt M, Navarini AA, Seyger MMB, Soler-Palacin P, Prins C, Valeyrie-Allanore L, Vicente MA, Trembath RC, Smith CH, Barker JN, Capon F. Hussain S, et al. Among authors: arostegui ji. J Allergy Clin Immunol. 2015 Apr;135(4):1067-1070.e9. doi: 10.1016/j.jaci.2014.09.043. Epub 2014 Nov 12. J Allergy Clin Immunol. 2015. PMID: 25458002 No abstract available.
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J. Holzinger D, et al. Among authors: arostegui ji. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27. J Allergy Clin Immunol. 2015. PMID: 26025129 Free PMC article.
Clues to management of neonatally diagnosed BTK deficiency.
Deyà-Martínez A, Esteve-Sole A, Giner MT, Aróstegui JI, Ruiz-Ortiz E, Yagüe J, Juan M, Plaza AM, Alsina L. Deyà-Martínez A, et al. Among authors: arostegui ji. Pediatr Allergy Immunol. 2016 Jun;27(4):428-30. doi: 10.1111/pai.12549. Epub 2016 Mar 16. Pediatr Allergy Immunol. 2016. PMID: 26844683 No abstract available.
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G, Esteve-Solé A, Piquer M, González-Navarro EA, Hernandez-Rodriguez J, Laayouni H, González-Roca E, Plaza-Martin AM, Deyà-Martínez Á, Martín-Nalda A, Martínez-Gallo M, García-Prat M, Del Pino-Molina L, Cuscó I, Codina-Solà M, Batlle-Masó L, Solís-Moruno M, Marquès-Bonet T, Bosch E, López-Granados E, Aróstegui JI, Soler-Palacín P, Colobran R, Yagüe J, Alsina L, Juan M, Casals F. de Valles-Ibáñez G, et al. Among authors: arostegui ji. Front Immunol. 2018 May 14;9:636. doi: 10.3389/fimmu.2018.00636. eCollection 2018. Front Immunol. 2018. PMID: 29867916 Free PMC article.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Mensa-Vilaró A, et al. Among authors: arostegui ji. J Allergy Clin Immunol. 2019 Jan;143(1):359-368. doi: 10.1016/j.jaci.2018.09.009. Epub 2018 Sep 29. J Allergy Clin Immunol. 2019. PMID: 30273710 Free article. Clinical Trial.
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI. Martín-Nalda A, et al. Among authors: arostegui ji. J Clin Immunol. 2020 Oct;40(7):987-1000. doi: 10.1007/s10875-020-00794-7. Epub 2020 Jul 15. J Clin Immunol. 2020. PMID: 32671674 Free PMC article.
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero E, Goycochea-Valdivia W, Mendez-Echevarria A, Allende LM, Alsina L, Bravo García-Morato M, Gil-Herrera J, Gudiol C, Len-Abad O, López-Medrano F, Moreno-Pérez D, Muñoz P, Olbrich P, Sánchez-Ramón S, Soler-Palacín P, Aguilera Cros C, Arostegui JI, Badell Serra I, Carbone J, Fortún J, Gonzalez-Granado LI, López-Granados E, Lucena JM, Parody R, Ramakers J, Regueiro JR, Rivière JG, Roca-Oporto C, Rodríguez Pena R, Santos-Pérez JL, Rodríguez-Gallego C, Neth O. Cordero E, et al. Among authors: arostegui ji. Enferm Infecc Microbiol Clin (Engl Ed). 2020 Nov;38(9):438-443. doi: 10.1016/j.eimc.2020.07.001. Enferm Infecc Microbiol Clin (Engl Ed). 2020. PMID: 33161954 English, Spanish.
Chilblains outbreak during COVID-19 pandemic: A Type-I interferonopathy?
Mensa-Vilaró A, Vicente A, Español-Rego M, Antón J, Fabregat V, Fortuny C, González EA, Fumadó V, González-Roca E, Jou C, Plaza S, Mosquera JM, Yagüe J, Prat C, Pascal M, Juan M, Arostegui JI, Baselga E, Alsina L. Mensa-Vilaró A, et al. Among authors: arostegui ji. Pediatr Allergy Immunol. 2022 Oct;33(10):e13860. doi: 10.1111/pai.13860. Pediatr Allergy Immunol. 2022. PMID: 36282139 Free PMC article. No abstract available.
170 results