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.
Recent publications
- Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeHeterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeDelafontaine, S., Iannuzzo, A., Bigley, T. M., Mylemans, B., Rana, R., Baatsen, P., Poli, M. C., Rymen, D., Jansen, K., Mekahli, D., Casteels, I., Cassiman, C., Demaerel, P., Lepelley, A., Frémond, M. L., Schrijvers, R., Bossuyt, X., Vints, K., Huybrechts, W. & Tacine, R. & 14 others, Willekens, K., Corveleyn, A., Boeckx, B., Baggio, M., Ehlers, L., Munck, S., Lambrechts, D., Voet, A., Moens, L., Bucciol, G., Cooper, M. A., Davis, C. M., Delon, J. & Meyts, I., Feb 15 2024, In: Journal of Clinical Investigation. 134, 4, […]
- Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of FunctionGuess, R., Harocopos, G., Bednarski, J. J., Hassmann, L. M. & Bigley, T. M., Jan 2024, In: Journal of Clinical Immunology. 44, 1, 19.Research output: Contribution to journal › Letter › peer-review
- Transcriptomic profiling of thymic dysregulation and viral tropism after neonatal roseolovirus infectionBelean, A., Xue, E., Cisneros, B., Roberson, E. D. O., Paley, M. A. & Bigley, T. M., 2024, In: Frontiers in immunology. 15, 1375508.Research output: Contribution to journal › Article › peer-review
- Childhood-Onset Lupus Nephritis in the Childhood Arthritis and Rheumatology Research Alliance Registry: Short-Term Kidney Status and Variation in CareFor the CARRA Registry Investigators, Jul 2023, In: Arthritis Care and Research. 75, 7, p. 1553-1562 10 p.Research output: Contribution to journal › Article › peer-review
- Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumoniaFogel, L. A., Bigley, T. M., Cole, J. J., Estabrook, M. M. & Kitcharoensakkul, M., Jun 1 2023, In: Pediatric Allergy and Immunology. 34, 6, p. e13968Research output: Contribution to journal › Letter › peer-review