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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: van eyck l. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. Van Eyck L, et al. Neuropediatrics. 2020 Jun;51(3):178-184. doi: 10.1055/s-0039-3400979. Epub 2019 Nov 28. Neuropediatrics. 2020. PMID: 31779033
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ. Melki I, et al. Among authors: van eyck l. J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. J Allergy Clin Immunol. 2017. PMID: 28087229
Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.
Frémond ML, Uggenti C, Van Eyck L, Melki I, Bondet V, Kitabayashi N, Hertel C, Hayday A, Neven B, Rose Y, Duffy D, Crow YJ, Rodero MP. Frémond ML, et al. Among authors: van eyck l. Arthritis Rheumatol. 2017 Jul;69(7):1495-1501. doi: 10.1002/art.40122. Epub 2017 Jun 5. Arthritis Rheumatol. 2017. PMID: 28426911
A novel kindred with inherited STAT2 deficiency and severe viral illness.
Moens L, Van Eyck L, Jochmans D, Mitera T, Frans G, Bossuyt X, Matthys P, Neyts J, Ciancanelli M, Zhang SY, Gijsbers R, Casanova JL, Boisson-Dupuis S, Meyts I, Liston A. Moens L, et al. Among authors: van eyck l. J Allergy Clin Immunol. 2017 Jun;139(6):1995-1997.e9. doi: 10.1016/j.jaci.2016.10.033. Epub 2017 Jan 10. J Allergy Clin Immunol. 2017. PMID: 28087227 No abstract available.
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.
Van Nieuwenhove E, Humblet-Baron S, Van Eyck L, De Somer L, Dooley J, Tousseyn T, Hershfield M, Liston A, Wouters C. Van Nieuwenhove E, et al. Among authors: van eyck l. Pediatrics. 2018 Sep;142(3):e20172266. doi: 10.1542/peds.2017-2266. Pediatrics. 2018. PMID: 30139808
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.
Van Eyck L Jr, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, Frans G, Schaballie H, De Hertogh G, Dooley J, Bossuyt X, Wouters C, Liston A, Meyts I. Van Eyck L Jr, et al. J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25. J Allergy Clin Immunol. 2015. PMID: 25457153 Free PMC article. No abstract available.
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.
Frans G, Moens L, Schaballie H, Van Eyck L, Borgers H, Wuyts M, Dillaerts D, Vermeulen E, Dooley J, Grimbacher B, Cant A, Declerck D, Peumans M, Renard M, De Boeck K, Hoffman I, François I, Liston A, Claessens F, Bossuyt X, Meyts I. Frans G, et al. Among authors: van eyck l. J Allergy Clin Immunol. 2014 Nov;134(5):1209-13.e6. doi: 10.1016/j.jaci.2014.05.044. Epub 2014 Jul 18. J Allergy Clin Immunol. 2014. PMID: 25042743 Free PMC article. No abstract available.
20 results