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Page 1
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.
Bastard P, Orlova E, Sozaeva L, Lévy R, James A, Schmitt MM, Ochoa S, Kareva M, Rodina Y, Gervais A, Le Voyer T, Rosain J, Philippot Q, Neehus AL, Shaw E, Migaud M, Bizien L, Ekwall O, Berg S, Beccuti G, Ghizzoni L, Thiriez G, Pavot A, Goujard C, Frémond ML, Carter E, Rothenbuhler A, Linglart A, Mignot B, Comte A, Cheikh N, Hermine O, Breivik L, Husebye ES, Humbert S, Rohrlich P, Coaquette A, Vuoto F, Faure K, Mahlaoui N, Kotnik P, Battelino T, Trebušak Podkrajšek K, Kisand K, Ferré EMN, DiMaggio T, Rosen LB, Burbelo PD, McIntyre M, Kann NY, Shcherbina A, Pavlova M, Kolodkina A, Holland SM, Zhang SY, Crow YJ, Notarangelo LD, Su HC, Abel L, Anderson MS, Jouanguy E, Neven B, Puel A, Casanova JL, Lionakis MS. Bastard P, et al. Among authors: shcherbina a. J Exp Med. 2021 Jul 5;218(7):e20210554. doi: 10.1084/jem.20210554. J Exp Med. 2021. PMID: 33890986 Free PMC article.
Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).
Deripapa E, Balashov D, Rodina Y, Laberko A, Myakova N, Davydova NV, Gordukova MA, Abramov DS, Pay GV, Shelikhova L, Prodeus AP, Maschan MA, Maschan AA, Shcherbina A. Deripapa E, et al. Among authors: shcherbina a. Front Immunol. 2017 Jul 24;8:807. doi: 10.3389/fimmu.2017.00807. eCollection 2017. Front Immunol. 2017. PMID: 28791007 Free PMC article.
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N. Le Coz C, et al. Among authors: shcherbina a. J Exp Med. 2021 Jul 5;218(7):e20201750. doi: 10.1084/jem.20201750. Epub 2021 May 5. J Exp Med. 2021. PMID: 33951726 Free PMC article.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J. Le Voyer T, et al. Among authors: shcherbina a. J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28. J Immunol. 2021. PMID: 34183371 Free PMC article.
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY,… See abstract for full author list ➔ Bastard P, et al. Among authors: shcherbina a. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study … See abstract for full author list ➔ Asano T, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies.
Rodina Y, Deripapa E, Shvets O, Mukhina A, Roppelt A, Yuhacheva D, Laberko A, Burlakov V, Abramov D, Tereshchenko G, Novichkova G, Shcherbina A. Rodina Y, et al. Among authors: shcherbina a. Front Immunol. 2021 Sep 9;12:704261. doi: 10.3389/fimmu.2021.704261. eCollection 2021. Front Immunol. 2021. PMID: 34566961 Free PMC article. Clinical Trial.
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection.
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O'Farrelly C, Novelli G, Rodríguez-Gallego C, Haerynck F, Prando C, Pujol A; COVID Human Genetic Effort; Su HC, Casanova JL, Spaan AN. Andreakos E, et al. Nat Immunol. 2022 Feb;23(2):159-164. doi: 10.1038/s41590-021-01030-z. Epub 2021 Oct 18. Nat Immunol. 2022. PMID: 34667308 Free PMC article. Review.
Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection.
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O'Farrelly C, Novelli G, Rodríguez-Gallego C, Haerynck F, Prando C, Pujol A; COVID Human Genetic Effort; Su HC, Casanova JL, Spaan AN. Andreakos E, et al. Nat Immunol. 2022 Feb;23(2):341. doi: 10.1038/s41590-021-01096-9. Nat Immunol. 2022. PMID: 34819675 Free PMC article. No abstract available.
189 results