Patients with Congenital Disorders of Glycosylation (CDGs) and other monogenic syndromes presenting with severe allergic disease in association with connective tissue abnormalities are actively being recruited and studied. A number of clinical assays have been developed in the laboratory in order to accomplish these goals: lectin-based flow cytometry is employed to characterize N-glycan abnormalities; ddPCR assays have been developed to perform tryptase genotyping and assay isoform-specific gene expression. Using molecular genetic techniques, we continue to characterize defects we have identified in discrete immune pathways and in glycosylation processes. To do so, we employ a number of techniques including cellular transfection and pathway inhibition with small molecules, siRNAs, shRNAs, and antibodies. As we characterize the role that altered glycosylation plays in allergic diseases and reactions, we seek to devise ways to manipulate these pathways to limit or alter disease pathogenesis.
| Lyons, Jonathan J; Stotz, Stephanie C; Chovanec, Jack et al. (2018) A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number. Genet Med 20:503-512 |
| Schussler, Edith; Yang, Amy; Lyons, Jonathan J et al. (2018) Persistent tryptase elevation in a patient with Gaucher disease. J Allergy Clin Immunol Pract 6:697-699 |
| Zhang, Yuan; Ma, Chi A; Lawrence, Monica G et al. (2017) PD-L1 up-regulation restrains Th17 cell differentiation inSTAT3loss- andSTAT1gain-of-function patients. J Exp Med 214:2523-2533 |
| Lyons, J J; Liu, Y; Ma, C A et al. (2017) ERBIN deficiency links STAT3 and TGF-? pathway defects with atopy in humans. J Exp Med 214:669-680 |
| Lyons, Jonathan J; Rosenberg, Helene F; Druey, Kirk M (2017) Editorial: Stressing out mast cells via CRF1. J Leukoc Biol 102:1284-1285 |
| Ma, Chi A; Stinson, Jeffrey R; Zhang, Yuan et al. (2017) Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet 49:1192-1201 |
| Carlson, Ryan J; Bond, Michelle R; Hutchins, Shermaine et al. (2017) Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry. J Allergy Clin Immunol 140:291-294.e4 |
| Lexmond, Willem S; Goettel, Jeremy A; Lyons, Jonathan J et al. (2016) FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy. J Clin Invest 126:4030-4044 |
| Lyons, Jonathan J; Yu, Xiaomin; Hughes, Jason D et al. (2016) Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet 48:1564-1569 |
| Lam, Christina; Ferreira, Carlos; Krasnewich, Donna et al. (2016) Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med : |
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