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Page 1
A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Mashbat B, Bellos E, Hodeib S, Bidmos F, Thwaites RS, Lu Y, Wright VJ, Herberg JA, Klobassa DS, Zenz W, Hansel TT, Nadel S, Langford PR, Schlapbach LJ, Li MS, Redinbo MR, Di YP, Levin M, Sancho-Shimizu V. Mashbat B, et al. Clin Infect Dis. 2020 May 6;70(10):2045-2053. doi: 10.1093/cid/ciz600. Clin Infect Dis. 2020. PMID: 31504285 Free PMC article.
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C. García-García A, et al. J Exp Med. 2023 May 1;220(5):e20220170. doi: 10.1084/jem.20220170. Epub 2023 Mar 3. J Exp Med. 2023. PMID: 36880831 Free PMC article.
Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.
Martinón-Torres F, Png E, Khor CC, Davila S, Wright VJ, Sim KS, Vega A, Fachal L, Inwald D, Nadel S, Carrol ED, Martinón-Torres N, Alonso SM, Carracedo A, Morteruel E, López-Bayón J, Torre AC, Monge CC, de Aguilar PA, Torné EE, Martínez-Padilla MD, Martinón-Sánchez JM, Levin M, Hibberd ML, Salas A; ESIGEM network; ESPID meningococcal consortium – UK; EUCLIDS consortium members - Imperial College London (www.euclids-project.eu). Martinón-Torres F, et al. Sci Rep. 2016 Nov 2;6:35842. doi: 10.1038/srep35842. Sci Rep. 2016. PMID: 27805046 Free PMC article.
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V, Chrabieh M, Lemmens NA, Sancho-Shimizu V, Descatoire M, Lasseau T, Israelsson E, Lorenzo L, Yun L, Belkadi A, Moran A, Weisman LE, Vandenesch F, Batteux F, Weller S, Levin M, Herberg J, Abhyankar A, Prando C, Itan Y, van Wamel WJB, Picard C, Abel L, Chaussabel D, Li X, Beutler B, Arkwright PD, Casanova JL, Puel A. Israel L, et al. Cell. 2017 Feb 23;168(5):789-800.e10. doi: 10.1016/j.cell.2017.01.039. Cell. 2017. PMID: 28235196 Free PMC article.
Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study.
Martinón-Torres F, Salas A, Rivero-Calle I, Cebey-López M, Pardo-Seco J, Herberg JA, Boeddha NP, Klobassa DS, Secka F, Paulus S, de Groot R, Schlapbach LJ, Driessen GJ, Anderson ST, Emonts M, Zenz W, Carrol ED, Van der Flier M, Levin M; EUCLIDS Consortium. Martinón-Torres F, et al. Lancet Child Adolesc Health. 2018 Jun;2(6):404-414. doi: 10.1016/S2352-4642(18)30113-5. Epub 2018 Apr 28. Lancet Child Adolesc Health. 2018. PMID: 30169282 Free article.
Human TANK-binding kinase 1 is required for early autophagy induction upon herpes simplex virus 1 infection.
Ahmad L, Mashbat B, Leung C, Brookes C, Hamad S, Krokowski S, Shenoy AR, Lorenzo L, Levin M, O'Hare P, Zhang SY, Casanova JL, Mostowy S, Sancho-Shimizu V. Ahmad L, et al. J Allergy Clin Immunol. 2019 Feb;143(2):765-769.e7. doi: 10.1016/j.jaci.2018.09.013. Epub 2018 Oct 5. J Allergy Clin Immunol. 2019. PMID: 30296527 Free article. No abstract available.
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.
Borghini L, Png E, Binder A, Wright VJ, Pinnock E, de Groot R, Hazelzet J, Emonts M, Van der Flier M, Schlapbach LJ, Anderson S, Secka F, Salas A, Fink C, Carrol ED, Pollard AJ, Coin LJ, Kuijpers TW, Martinon-Torres F, Zenz W, Levin M, Hibberd ML, Davila S; EUCLIDS consortium. Borghini L, et al. Sci Rep. 2019 May 6;9(1):6966. doi: 10.1038/s41598-019-43292-6. Sci Rep. 2019. PMID: 31061469 Free PMC article.
Plasma lipid profiles discriminate bacterial from viral infection in febrile children.
Wang X, Nijman R, Camuzeaux S, Sands C, Jackson H, Kaforou M, Emonts M, Herberg JA, Maconochie I, Carrol ED, Paulus SC, Zenz W, Van der Flier M, de Groot R, Martinon-Torres F, Schlapbach LJ, Pollard AJ, Fink C, Kuijpers TT, Anderson S, Lewis MR, Levin M, McClure M; EUCLIDS consortium. Wang X, et al. Sci Rep. 2019 Nov 27;9(1):17714. doi: 10.1038/s41598-019-53721-1. Sci Rep. 2019. PMID: 31776453 Free PMC article.
Human genetics of meningococcal infections.
Hodeib S, Herberg JA, Levin M, Sancho-Shimizu V. Hodeib S, et al. Hum Genet. 2020 Jun;139(6-7):961-980. doi: 10.1007/s00439-020-02128-4. Epub 2020 Feb 17. Hum Genet. 2020. PMID: 32067109 Free PMC article. Review.
Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study.
Borghesi A, Trück J, Asgari S, Sancho-Shimizu V, Agyeman PKA, Bellos E, Giannoni E, Stocker M, Posfay-Barbe KM, Heininger U, Bernhard-Stirnemann S, Niederer-Loher A, Kahlert CR, Natalucci G, Relly C, Riedel T, Kuehni CE, Thorball CW, Chaturvedi N, Martinon-Torres F, Kuijpers TW, Coin L, Wright V, Herberg J, Levin M, Aebi C, Berger C, Fellay J, Schlapbach LJ. Borghesi A, et al. Clin Infect Dis. 2020 Dec 17;71(10):e614-e623. doi: 10.1093/cid/ciaa290. Clin Infect Dis. 2020. PMID: 32185379 Free PMC article.
127 results