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Page 1
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. Bohlen J, et al. Among authors: alsina l. J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. J Clin Invest. 2024. PMID: 39403923 Free PMC article.
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.
Israni M, Alderson E, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Berg S, Soler-Palacin P, Campbell M, Burns SO; ESID Clinical Working Party; ERN RITA Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2024 Dec 17;45(1):57. doi: 10.1007/s10875-024-01838-y. J Clin Immunol. 2024. PMID: 39690292 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.
Camino-Mera A, Pardo-Seco J, Bello X, Argiz L, Boyle RJ, Custovic A, Herberg J, Kaforou M, Arasi S, Fiocchi A, Pecora V, Barni S, Mori F, Bracamonte T, Echeverria L, O'Valle-Aísa V, Hernández-Martínez NL, Carballeira I, García E, Garcia-Magan C, Moure-González JD, Gonzalez-Delgado P, Garriga-Baraut T, Infante S, Zambrano-Ibarra G, Tomás-Pérez M, Machinena A, Pascal M, Prieto A, Vázquez-Cortes S, Fernández-Rivas M, Vila L, Alsina L, Torres MJ, Mangone G, Quirce S, Martinón-Torres F, Vázquez-Ortiz M, Gómez-Carballa A, Salas A. Camino-Mera A, et al. Among authors: alsina l. Clin Exp Allergy. 2024 Nov;54(11):919-929. doi: 10.1111/cea.14564. Epub 2024 Sep 30. Clin Exp Allergy. 2024. PMID: 39348862
Determining value in the treatment of activated PI3Kδ syndrome in Spain: a multicriteria decision analysis from the perspective of key stakeholders.
Abad MR, Alerany C, Alsina L, Granados EL, Neth O, Poveda JL, Rivière JG, Rodríguez-Gallego C, Tutein Nolthenius JB, Figueiredo R, Labazuy SS, Gil A. Abad MR, et al. Among authors: alsina l. Glob Reg Health Technol Assess. 2024 May 22;11:124-130. doi: 10.33393/grhta.2024.3041. eCollection 2024 Jan-Dec. Glob Reg Health Technol Assess. 2024. PMID: 38784663 Free PMC article.
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 Free PMC article.
129 results