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Page 1
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.
Chan YH, Lundberg V, Le Pen J, Yuan J, Lee D, Pinci F, Volpi S, Nakajima K, Bondet V, Åkesson S, Khobrekar NV, Bodansky A, Du L, Melander T, Mariaggi AA, Seeleuthner Y, Saleh TS, Chakravarty D, Marits P, Dobbs K, Vonlanthen S, Hennings V, Thörn K, Rinchai D, Bizien L, Chaldebas M, Sobh A, Özçelik T, Keles S, AlKhater SA, Prando C, Meyts I; COVID Human Genetic Effort; Wilson MR, Rosain J, Jouanguy E, Aubart M, Abel L, Mogensen TH, Pan-Hammarström Q, Gao D, Duffy D, Cobat A, Berg S, Notarangelo LD, Harschnitz O, Rice CM, Studer L, Casanova JL, Ekwall O, Zhang SY. Chan YH, et al. J Exp Med. 2024 Sep 2;221(9):e20231725. doi: 10.1084/jem.20231725. Epub 2024 Jul 18. J Exp Med. 2024. PMID: 39023559 Free PMC article.
Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.
Boyarchuk O, Kostyuchenko L, Akopyan H, Bondarenko A, Volokha A, Hilfanova A, Savchak I, Nazarenko L, Yarema N, Urbas O, Hrabovska I, Lysytsia O, Budzyn A, Tykholaz O, Ivanchuk M, Bastanohova O, Patskun E, Vasylenko N, Stepanovskyy Y, Chernyshova L, Makukh H. Boyarchuk O, et al. Front Immunol. 2024 Jun 28;15:1428724. doi: 10.3389/fimmu.2024.1428724. eCollection 2024. Front Immunol. 2024. PMID: 39007137 Free PMC article.
The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.
Caorsi R, Consolaro A, Speziani C, Sozeri B, Ulu K, Faugier-Fuentes E, Menchaca-Aguayo H, Ozen S, Sener S, Akhter Rahman S, Imnul Islam M, Haerynck F, Simonini G, Mastri MV, Avcin T, Sršen S, de Albuquerque Pedrosa Fernandes T, Stanevicha V, Vojinovic J, Sobh A, Fingerhutova S, Minxova L, Gagro A, Rodrigues Fonseca A, Pandya D, Varbanova B, Sánchez-Manubens J, Ganeva M, Montin D, Boyarchuk O, Minghini A, Bracaglia C, Brogan P, Candotti F, Cattalini M, Meyts I, Minoia F, Taddio A, Wouters C, De Benedetti F, Bovis F, Ravelli A, Ruperto N, Gattorno M; HyperPED-COVID study group; ERN-RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases); PReS (Pediatric Rheumatology European Society); ESID (European Society for Immunodeficiencies); ISSAID (International Society of Systemic Auto-Inflammatory Diseases) and the; **Paediatric Rheumatology International Trials Organisation (PRINTO); Bilginer Y, Laila K, Islam MM, Meertens B, Hoste L, Dehoorne J, Schelstraete P, Vandekerckhove K, Willems J, Matthijs I, Filocamo E Gisella Beatrice Beretta G, Magalhaes CS, Chubata O, Ricci F, Vukovic A, Temelkova K, Avramovic MZ, Emersic N, Bizjak M, Vese… See abstract for full author list ➔ Caorsi R, et al. Among authors: boyarchuk o. J Autoimmun. 2024 Jul;147:103265. doi: 10.1016/j.jaut.2024.103265. Epub 2024 Jun 4. J Autoimmun. 2024. PMID: 38838452
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.
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Patel PK, Chinga ML, Yilmaz M, Joychan S, Ujhazi B, Ellison M, Gordon S, Nieves D, Csomos K, Eslin D, Afify ZA, Meznarich J, Bohnsack J, Walkovich K, Seidel MG, Sharapova S, Boyarchuk O, Latysheva E, Tuzankina I, Shaker AB, Ayala I, Sriaroon P, Westermann-Clark E, Walter JE. Patel PK, et al. Among authors: boyarchuk o. J Clin Immunol. 2024 Feb 29;44(3):72. doi: 10.1007/s10875-024-01677-x. J Clin Immunol. 2024. PMID: 38421526 No abstract available.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Le… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
Bondarenko AV, Boyarchuk OR, Sakovich IS, Polyakova EA, Migas AA, Kupchinskaya AN, Opalinska A, Reich A, Volianska L, Hilfanova AM, Lapiy FI, Chernyshova LI, Volokha AP, Zabara DV, Belevtsev MV, Shman TV, Kukharenko LV, Goltsev MV, Dubouskaya TG, Hancharou AY, Ji W, Lakhani S, Lucas CL, Aleinikova OV, Sharapova SO. Bondarenko AV, et al. Among authors: boyarchuk or. Clin Case Rep. 2023 Aug 16;11(8):e7791. doi: 10.1002/ccr3.7791. eCollection 2023 Aug. Clin Case Rep. 2023. PMID: 37601427 Free PMC article.
59 results