Featured publications

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

January 4, 2024

Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana RR, 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 AR, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome. J Clin Invest. 2024 Jan 4:e163604. doi: 10.1172/JCI163604. Epub ahead of print. PMID: 38175705.

Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function

December 22, 2023

Guess R, Harocopos G, Bednarski JJ, Hassmann LM, Bigley TM. Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function. J Clin Immunol. 2023 Dec 22;44(1):19. doi: 10.1007/s10875-023-01622-4. PMID: 38129715; PMCID: PMC10739487.

Murine roseolovirus does not accelerate amyloid-β pathology and human roseoloviruses are not over-represented in Alzheimer disease brains

January 15, 2022

Bigley TM, Xiong M, Ali M, Chen Y, Wang C, Serrano JR, Eteleeb A, Harari O, Yang L, Patel SJ, Cruchaga C, Yokoyama WM, Holtzman DM. Murine roseolovirus does not accelerate amyloid-β pathology and human roseoloviruses are not over-represented in Alzheimer disease brains. Mol Neurodegener. 2022 Jan 15;17(1):10. doi: 10.1186/s13024-021-00514-8. PMID: 35033173; PMCID: PMC8760754.

Disruption of thymic central tolerance by infection with murine roseolovirus induces autoimmune gastritis

March 7, 2022

Bigley TM, Yang L, Kang LI, Saenz JB, Victorino F, Yokoyama WM. Disruption of thymic central tolerance by infection with murine roseolovirus induces autoimmune gastritis. J Exp Med. 2022 Mar 7;219(3):e20211403. doi: 10.1084/jem.20211403. Epub 2022 Feb 28. PMID: 35226043; PMCID: PMC8932538.

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