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Page 1
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Taft J, et al. Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6. Cell. 2021. PMID: 34363755 Free PMC article.
International Pediatric COVID-19 Severity Over the Course of the Pandemic.
Zhu Y, Almeida FJ, Baillie JK, Bowen AC, Britton PN, Brizuela ME, Buonsenso D, Burgner D, Chew KY, Chokephaibulkit K, Cohen C, Cormier SA, Crawford N, Curtis N, Farias CGA, Gilks CF, von Gottberg A, Hamer D, Jarovsky D, Jassat W, Jesus AR, Kemp LS, Khumcha B, McCallum G, Miller JE, Morello R, Munro APS, Openshaw PJM, Padmanabhan S, Phongsamart W, Reubenson G, Ritz N, Rodrigues F, Rungmaitree S, Russell F, Sáfadi MAP, Saner C, Semple MG, Prado da Silva DGB, de Sousa LMM, Diogo Moço Souza M, Spann K, Walaza S, Wolter N, Xia Y, Yeoh DK, Zar HJ, Zimmermann P, Short KR; International Severe Acute Respiratory and Emerging Infection Consortium Comprehensive Clinical Characterisation Collaboration (ISARIC4C) investigatorsPediatric Active Enhanced Disease Surveillance (PAEDS) Network group. Zhu Y, et al. JAMA Pediatr. 2023 Oct 1;177(10):1073-1084. doi: 10.1001/jamapediatrics.2023.3117. JAMA Pediatr. 2023. PMID: 37603343
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort… See abstract for full author list ➔ Zhang Q, et al. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
Inborn errors of autophagy and infectious diseases.
Sabli IK, Sancho-Shimizu V. Sabli IK, et al. Curr Opin Immunol. 2021 Oct;72:272-276. doi: 10.1016/j.coi.2021.07.005. Epub 2021 Aug 7. Curr Opin Immunol. 2021. PMID: 34371322 Review.
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: sancho shimizu v. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.
Herman M, Ciancanelli M, Ou YH, Lorenzo L, Klaudel-Dreszler M, Pauwels E, Sancho-Shimizu V, Pérez de Diego R, Abhyankar A, Israelsson E, Guo Y, Cardon A, Rozenberg F, Lebon P, Tardieu M, Heropolitanska-Pliszka E, Chaussabel D, White MA, Abel L, Zhang SY, Casanova JL. Herman M, et al. J Exp Med. 2012 Aug 27;209(9):1567-82. doi: 10.1084/jem.20111316. Epub 2012 Jul 30. J Exp Med. 2012. PMID: 22851595 Free PMC article.
Human TBK1: A Gatekeeper of Neuroinflammation.
Ahmad L, Zhang SY, Casanova JL, Sancho-Shimizu V. Ahmad L, et al. Trends Mol Med. 2016 Jun;22(6):511-527. doi: 10.1016/j.molmed.2016.04.006. Trends Mol Med. 2016. PMID: 27211305 Free PMC article. Review.
TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons.
Gao D, Ciancanelli MJ, Zhang P, Harschnitz O, Bondet V, Hasek M, Chen J, Mu X, Itan Y, Cobat A, Sancho-Shimizu V, Bigio B, Lorenzo L, Ciceri G, McAlpine J, Anguiano E, Jouanguy E, Chaussabel D, Meyts I, Diamond MS, Abel L, Hur S, Smith GA, Notarangelo L, Duffy D, Studer L, Casanova JL, Zhang SY. Gao D, et al. J Clin Invest. 2021 Jan 4;131(1):e134529. doi: 10.1172/JCI134529. J Clin Invest. 2021. PMID: 33393505 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.
125 results