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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: ehlers l. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 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.
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: ehlers l. J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z. J Clin Immunol. 2023. PMID: 38099988
Treat-to-target strategies for the management of familial Mediterranean Fever in children.
Ehlers L, Rolfes E, Lieber M, Müller D, Lainka E, Gohar F, Klaus G, Girschick H, Hörstermann J, Kümmerle-Deschner J, Brunner J, Palm-Beden K, Tenbrock K, von Wrangel L, Faßhauer M, Blank N, Trauzeddel R, von Stuckrad ASL, Higgins S, Welzel T, Lutz T, Hentgen V, Foell D, Wittkowski H, Kallinich T. Ehlers L, et al. Pediatr Rheumatol Online J. 2023 Sep 26;21(1):108. doi: 10.1186/s12969-023-00875-y. Pediatr Rheumatol Online J. 2023. PMID: 37752496 Free PMC article.
176 results