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Page 1
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M, Ehlers L, Van Eynde W, Kars ME, Delafontaine S, Kienapfel V, Dzhus M, Schrijvers R, De Haes P, Struyf S, Bucciol G, Itan Y, Bolze A, Voet A, Hombrouck A, Moens L, Ogunjimi B, Meyts I. Wouters M, et al. Among authors: delafontaine s. medRxiv [Preprint]. 2024 Dec 11:2024.12.09.24317629. doi: 10.1101/2024.12.09.24317629. medRxiv. 2024. PMID: 39711711 Free PMC article. Preprint.
A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej MST, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin MF, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J. Borbaran Bravo N, et al. Among authors: delafontaine s. Blood. 2024 Dec 6:blood.2023022576. doi: 10.1182/blood.2023022576. Online ahead of print. Blood. 2024. PMID: 39642330
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Iannuzzo A, Delafontaine S, El Masri R, Tacine R, Prencipe G, Nishitani-Isa M, van Wijck RTA, Bhuyan F, de Jesus Rasheed AA, Coppola S, van Daele PLA, Insalaco A, Goldbach-Mansky R, Yasumi T, Tartaglia M, Meyts I, Delon J. Iannuzzo A, et al. Among authors: delafontaine s. Nat Commun. 2024 Nov 16;15(1):9940. doi: 10.1038/s41467-024-54294-y. Nat Commun. 2024. PMID: 39550374 Free PMC article.
Human ADA2 Deficiency: Ten Years Later.
Wouters M, Ehlers L, Dzhus M, Kienapfel V, Bucciol G, Delafontaine S, Hombrouck A, Pillay B, Moens L, Meyts I. Wouters M, et al. Among authors: delafontaine s. Curr Allergy Asthma Rep. 2024 Sep;24(9):477-484. doi: 10.1007/s11882-024-01163-9. Epub 2024 Jul 6. Curr Allergy Asthma Rep. 2024. PMID: 38970744 Free PMC article. Review.
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
Riestra MR, Pillay BA, Willemsen M, Kienapfel V, Ehlers L, Delafontaine S, Pinton A, Wouters M, Hombrouck A, Sauer K, Bossuyt X, Voet A, Soenen SJ, Conde CD, Bucciol G, Boztug K, Humblet-Baron S, Touzart A, Rieux-Laucat F, Notarangelo LD, Moens L, Meyts I. Riestra MR, et al. Among authors: delafontaine s. J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z. J Clin Immunol. 2023. PMID: 38099988 Free PMC article.
Inborn errors of immunity: A field without frontiers.
Bucciol G, Delafontaine S, Meyts I, Poli C. Bucciol G, et al. Among authors: delafontaine s. Immunol Rev. 2024 Mar;322(1):15-27. doi: 10.1111/imr.13297. Epub 2023 Dec 8. Immunol Rev. 2024. PMID: 38062988 Review.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: delafontaine s. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
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, Casanova JL. Lee D, et al. Among authors: delafontaine s. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis.
Ehlers L, Bucciol G; KU Leuven - UZA DADA2 team; Beysen D, Meyts I. Ehlers L, et al. J Clin Immunol. 2023 Apr;43(3):536-539. doi: 10.1007/s10875-022-01413-3. Epub 2022 Dec 6. J Clin Immunol. 2023. PMID: 36472692 Free PMC article. No abstract available.
22 results