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Case Report: Aplastic anemia related to a novel CTLA4 variant.
Hall G, Markle JG, Maiarana J, Martin PL, Rothman JA, Sleasman JW, Lederman H, Azar AE, Brodsky RA, Mousallem T. Hall G, et al. Among authors: markle jg. Front Pediatr. 2024 Aug 16;12:1434076. doi: 10.3389/fped.2024.1434076. eCollection 2024. Front Pediatr. 2024. PMID: 39220156 Free PMC article.
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X, Betti MJ, Kars ME, Patterson AR, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon ER, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. J Clin Immunol. 2024. PMID: 39630167 Free PMC article.
Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency.
Duke S, Maiarana J, Yousefi P, Burks E, Gerrie S, Setiadi A; BC Children's and St Paul's Hospital Members; Hildebrand KJ, James E, Turvey SE, Markle JG, Biggs CM. Duke S, et al. Among authors: markle jg. Pediatr Allergy Immunol. 2024 Feb;35(2):e14077. doi: 10.1111/pai.14077. Pediatr Allergy Immunol. 2024. PMID: 38351878 No abstract available.
Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells.
Jacobse J, Brown RE, Li J, Pilat JM, Pham L, Short SP, Peek CT, Rolong A, Washington MK, Martinez-Barricarte R, Byndloss MX, Shelton C, Markle JG, Latour YL, Allaman MM, Cassat JE, Wilson KT, Choksi YA, Williams CS, Lau KS, Flynn CR, Casanova JL, Rings EHHM, Samsom JN, Goettel JA. Jacobse J, et al. Among authors: markle jg. Cell Rep. 2023 Feb 28;42(2):112128. doi: 10.1016/j.celrep.2023.112128. Epub 2023 Feb 17. Cell Rep. 2023. PMID: 36807140 Free PMC article.
Functional Overlap of Inborn Errors of Immunity and Metabolism Genes Define T Cell Immunometabolic Vulnerabilities.
Patterson AR, Needle GA, Sugiura A, Chi C, Steiner KK, Fisher EL, Robertson GL, Bodnya C, Markle JG, Gama V, Rathmell JC. Patterson AR, et al. Among authors: markle jg. bioRxiv [Preprint]. 2023 Jan 24:2023.01.24.525419. doi: 10.1101/2023.01.24.525419. bioRxiv. 2023. Update in: Sci Immunol. 2024 Aug 16;9(98):eadh0368. doi: 10.1126/sciimmunol.adh0368 PMID: 36747715 Free PMC article. Updated. Preprint.
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