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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. Among authors: bucciol g. 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: bucciol g. J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z. J Clin Immunol. 2023. PMID: 38099988
Inborn errors of immunity: A field without frontiers.
Bucciol G, Delafontaine S, Meyts I, Poli C. Bucciol G, et al. Immunol Rev. 2024 Mar;322(1):15-27. doi: 10.1111/imr.13297. Epub 2023 Dec 8. Immunol Rev. 2024. PMID: 38062988 Review.
Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation.
Frans G, Michiels B, Picard C, Ampofo L, Raes M, Toelen J, Bucciol G, van der Werff Ten Bosch J, Moens L, Wuyts G, Dillaerts D, Casanova JL, Schrijvers R, Meyts I, Bossuyt X. Frans G, et al. Among authors: bucciol g. Clin Chem Lab Med. 2023 Nov 6;62(4):e102-e105. doi: 10.1515/cclm-2023-0999. Print 2024 Mar 25. Clin Chem Lab Med. 2023. PMID: 37929815 No abstract available.
Combined deficient response to polysaccharide-based and protein-based vaccines predicts a severe clinical phenotype.
Cockx M, Haerynck F, Hoste L, Schrijvers R, Van der Werff Ten Bosch J, Dillaerts D, Thomas D, Schaballie H, Bucciol G, Robberechts W, Patel D, Berbers G, Desombere I, Geukens N, Meyts I, Bossuyt X. Cockx M, et al. Among authors: bucciol g. Clin Chem Lab Med. 2023 Sep 21;62(1):138-149. doi: 10.1515/cclm-2023-0626. Print 2024 Jan 26. Clin Chem Lab Med. 2023. PMID: 37731388
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
Nishimura A, Uppuluri R, Raj R, Swaminathan VV, Cheng Y, Abu-Arja RF, Fu B, Laberko A, Albert MH, Hauck F, Bucciol G, Bigley V, Elcombe S, Kharya G, Pronk CJH, Wehr C, Neven B, Warnatz K, Meyts I, Morio T, Gennery AR, Kanegane H. Nishimura A, et al. Among authors: bucciol g. J Clin Immunol. 2023 Nov;43(8):1827-1839. doi: 10.1007/s10875-023-01551-2. Epub 2023 Jul 16. J Clin Immunol. 2023. PMID: 37454339 Review.
51 results