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Page 1
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. 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.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
Gathmann B, Mahlaoui N; CEREDIH; Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID; van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party. Gathmann B, et al. J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24582312
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach JE, Irvine AD, Képíró L, Mockenhaupt M, Oon HH, Pinner J, Ranki A, Seyger MMB, Soler-Palacin P, Storan ER, Tan ES, Valeyrie-Allanore L, Young HS, Trembath RC, Choon SE, Szell M, Bata-Csorgo Z, Smith CH, Di Meglio P, Barker JN, Capon F. Mahil SK, et al. J Invest Dermatol. 2016 Nov;136(11):2251-2259. doi: 10.1016/j.jid.2016.06.618. Epub 2016 Jul 5. J Invest Dermatol. 2016. PMID: 27388993 Free PMC article.
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. 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. 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. 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. 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
Novel Mutations Causing C5 Deficiency in Three North-African Families.
Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170
249 results