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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 1
2007 1
2008 3
2010 1
2011 3
2012 2
2013 3
2014 5
2015 4
2016 4
2017 2
2018 2
2019 7
2020 7
2021 4
2022 12
2023 10
2024 5

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70 results

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Page 1
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Among authors: perez de diego r. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
Immunodeficiency and CARD-BCL10-MALT1.
Pérez de Diego R. Pérez de Diego R. Oncotarget. 2015 Aug 21;6(24):19934-5. doi: 10.18632/oncotarget.4467. Oncotarget. 2015. PMID: 26287604 Free PMC article. No abstract available.
Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Liu Z, Garcia Reino EJ, Harschnitz O, Guo H, Chan YH, Khobrekar NV, Hasek ML, Dobbs K, Rinchai D, Materna M, Matuozzo D, Lee D, Bastard P, Chen J, Lee YS, Kim SK, Zhao S, Amin P, Lorenzo L, Seeleuthner Y, Chevalier R, Mazzola L, Gay C, Stephan JL, Milisavljevic B, Boucherit S, Rozenberg F, Perez de Diego R, Dix RD, Marr N, Béziat V, Cobat A, Aubart M, Abel L, Chabrier S, Smith GA, Notarangelo LD, Mocarski ES, Studer L, Casanova JL, Zhang SY. Liu Z, et al. Among authors: perez de diego r. Sci Immunol. 2023 Apr 21;8(82):eade2860. doi: 10.1126/sciimmunol.ade2860. Epub 2023 Apr 21. Sci Immunol. 2023. PMID: 37083451 Free PMC article.
Inherited human ezrin deficiency impairs adaptive immunity.
García-Solís B, Van Den Rym A, Martinez-Martínez L, Franco T, Pérez-Caraballo JJ, Markle J, Cubillos-Zapata C, Marín AV, Recio MJ, Regueiro JR, Navarro-Zapata A, Mestre-Durán C, Ferreras C, Martín Cotázar C, Mena R, de la Calle-Fabregat C, López-Lera A, Fernández Arquero M, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Casanova JL, Martínez-Barricarte R, de la Calle-Martín O, Pérez de Diego R. García-Solís B, et al. Among authors: perez de diego r. J Allergy Clin Immunol. 2023 Oct;152(4):997-1009.e11. doi: 10.1016/j.jaci.2023.05.022. Epub 2023 Jun 8. J Allergy Clin Immunol. 2023. PMID: 37301410 Free PMC article.
Inherited Human BCL10 Deficiencies.
Alsaidalani AA, García-Solís B, Bukhari E, Van Den Rym A, López-Collazo E, Sánchez-Ramón S, Corvillo F, López-Lera A, de Andrés A, Martínez-Barricarte R, Perez de Diego R. Alsaidalani AA, et al. Among authors: perez de diego r. J Clin Immunol. 2023 Dec 22;44(1):13. doi: 10.1007/s10875-023-01619-z. J Clin Immunol. 2023. PMID: 38129623 Review.
Autoantibodies against type I IFNs in patients with critical influenza pneumonia.
Zhang Q, Pizzorno A, Miorin L, Bastard P, Gervais A, Le Voyer T, Bizien L, Manry J, Rosain J, Philippot Q, Goavec K, Padey B, Cupic A, Laurent E, Saker K, Vanker M, Särekannu K; COVID Human Genetic Effort; Etablissement Français du Sang Study Group; Constances Cohort; 3C-Dijon Study; Cerba HealthCare Group; Lyon Antigrippe Working Group; REIPI INF Working Group; García-Salum T, Ferres M, Le Corre N, Sánchez-Céspedes J, Balsera-Manzanero M, Carratala J, Retamar-Gentil P, Abelenda-Alonso G, Valiente A, Tiberghien P, Zins M, Debette S, Meyts I, Haerynck F, Castagnoli R, Notarangelo LD, Gonzalez-Granado LI, Dominguez-Pinilla N, Andreakos E, Triantafyllia V, Rodríguez-Gallego C, Solé-Violán J, Ruiz-Hernandez JJ, Rodríguez de Castro F, Ferreres J, Briones M, Wauters J, Vanderbeke L, Feys S, Kuo CY, Lei WT, Ku CL, Tal G, Etzioni A, Hanna S, Fournet T, Casalegno JS, Queromes G, Argaud L, Javouhey E, Rosa-Calatrava M, Cordero E, Aydillo T, Medina RA, Kisand K, Puel A, Jouanguy E, Abel L, Cobat A, Trouillet-Assant S, García-Sastre A, Casanova JL. Zhang Q, et al. J Exp Med. 2022 Nov 7;219(11):e20220514. doi: 10.1084/jem.20220514. Epub 2022 Sep 16. J Exp Med. 2022. PMID: 36112363 Free PMC article.
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, Karabela ŞN, Khan T, Kendir-Demirkol Y, Arias AA, Mansouri D, Marits P, Marr N, Migeotte I, Moens L, Ozcelik T, Pellier I, Sendel A, Şenoğlu, S, Shahrooei M, Smith CIE, Vandernoot I, Willekens K, Kart Yaşar K; COVID Human Genetic Effort; Bergman P, Abel L, Cobat A, Casanova JL, Meyts I, Bryceson YT. Campbell TM, et al. J Exp Med. 2022 Jul 4;219(7):e20220202. doi: 10.1084/jem.20220202. Epub 2022 Jun 7. J Exp Med. 2022. PMID: 35670811 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. Among authors: perez de diego r. 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.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Zhang Q, et al. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. J Exp Med. 2022. PMID: 35708626 Free PMC article.
70 results