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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<… See abstract for full author list ➔ Lee D, et al. Among authors: zhang sy, zhang p, zhang q, zhang y. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q. Abolhassani H, et al. Among authors: zhang y. J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23. J Exp Med. 2017. PMID: 28011864 Free PMC article.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Lamborn IT, et al. Among authors: zhang y. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12. J Exp Med. 2017. PMID: 28606988 Free PMC article.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: zhang y. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J, Lei WT, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, Asano T, Rosain J, Hammadi B, Zhang Y, Pelham SJ, Spaan AN, Migaud M, Hum D, Bigio B, Chrabieh M, Béziat V, Bustamante J, Zhang SY, Jouanguy E, Boisson-Dupuis S, El Baghdadi J, Aimanianda V, Thoma K, Fliegauf M, Grimbacher B, Korganow AS, Saunders C, Rao VK, Uzel G, Freeman AF, Holland SM, Su HC, Cunningham-Rundles C, Fieschi C, Abel L, Puel A, Cobat A, Casanova JL, Zhang Q, Boisson B. Li J, et al. Among authors: zhang sy, zhang p, zhang q, zhang y. J Exp Med. 2021 Nov 1;218(11):e20210566. doi: 10.1084/jem.20210566. Epub 2021 Sep 2. J Exp Med. 2021. PMID: 34473196 Free PMC article.
Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19.
Carmona-Rivera C, Zhang Y, Dobbs K, Markowitz TE, Dalgard CL, Oler AJ, Claybaugh DR, Draper D, Truong M, Delmonte OM, Licciardi F, Ramenghi U, Crescenzio N, Imberti L, Sottini A, Quaresima V, Fiorini C, Discepolo V, Lo Vecchio A, Guarino A, Pierri L, Catzola A, Biondi A, Bonfanti P, Poli Harlowe MC, Espinosa Y, Astudillo C, Rey-Jurado E, Vial C, de la Cruz J, Gonzalez R, Pinera C, Mays JW, Ng A, Platt A; NIH COVID Autopsy Consortium; COVID STORM Clinicians; Drolet B, Moon J, Cowen EW, Kenney H, Weber SE, Castagnoli R, Magliocco M, Stack MA, Montealegre G, Barron K, Hewitt SM, Arkin LM, Chertow DS, Su HC, Notarangelo LD, Kaplan MJ. Carmona-Rivera C, et al. Among authors: zhang y. medRxiv [Preprint]. 2022 Mar 3:2022.02.24.22271475. doi: 10.1101/2022.02.24.22271475. medRxiv. 2022. PMID: 35262093 Free PMC article. Updated. Preprint.
Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C).
Redmond C, Kitakule MM, Son A, Sylvester M, Sacco K, Delmonte O, Licciardi F, Castagnoli R, Poli C, Espinoza Y, Astudillo C, Weber SE, Sanchez GAM, Barron K, Magliocco M, Dobbs K, Zhang Y, Matthews H, Oguz C, Su HC, Notarangelo LD, Frischmeyer-Guerrerio PA, Schwartz DM. Redmond C, et al. Among authors: zhang y. medRxiv [Preprint]. 2022 Sep 2:2022.08.31.22279265. doi: 10.1101/2022.08.31.22279265. medRxiv. 2022. PMID: 36093351 Free PMC article. Updated. Preprint.
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