Publications — Markle Lab

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.J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0.PMID: 39630167

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.Front Pediatr. 2024 Aug 16;12:1434076. doi: 10.3389/fped.2024.1434076. eCollection 2024.PMID: 39220156

Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities. Patterson AR, Needle GA, Sugiura A, Jennings EQ, Chi C, Steiner KK, Fisher EL, Robertson GL, Bodnya C, Markle JG, Sheldon RD, Jones RG, Gama V, Rathmell JC.Sci Immunol. 2024 Aug 16;9(98):eadh0368. doi: 10.1126/sciimmunol.adh0368. Epub 2024 Aug 16.PMID: 39151020

Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1. Bhattad S, Ramakrishna SH, Kumar R, Choi JM, Markle JG.Front Immunol. 2024 Jul 15;15:1406781. doi: 10.3389/fimmu.2024.1406781. eCollection 2024.PMID: 39076976

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. Pediatr Allergy Immunol. 2024 Feb;35(2):e14077. doi: 10.1111/pai.14077.PMID: 38351878

Clinical and cellular phenotypes resulting from a founder mutation in IL10RB. Mao Z, Betti MJ, Cedeno MA, Pedroza LA, Basaria S, Liu Q, Choi JM, Markle JG.Clin Exp Immunol. 2024 Apr 23;216(2):113-119. doi: 10.1093/cei/uxad085.PMID: 37503744

Deep immunophenotyping shows altered immune cell subsets in CTLA-4 haploinsufficiency. Maiarana J, Moncada-Velez M, Malbran E, Torre MG, Elonen C, Malbran A, Markle JG. Pediatr Allergy Immunol. 2023 Jul;34(7):e13994. doi: 10.1111/pai.13994.PMID: 37492916

García-Solís, B., Van Den Rym, A., Martinez-Martínez, L., Franco, T., Pérez-Caraballo, J. J., Markle, J., Cubillos-Zapata, C., Marín, A. V., Recio, M. J., Regueiro, J. R., Navarro-Zapata, A., Mestre-Durán, C., Ferreras, C., Cotázar, C. M., Mena, R., Calle-Fabregat, C., López-Lera, A., Arquero, M. F., Pérez-Martínez, A., López-Collazo, E., … Pérez de Diego, R. (2023). Inherited human ezrin deficiency impairs adaptive immunity. The Journal of allergy and clinical immunology, S0091-6749(23)00749-2. Advance online publication. https://doi.org/10.1016/j.jaci.2023.05.022

2. Bhattad, S., Libre, M., Choi, J. M., Mohite, R. S., Singh, N., & Markle, J. G. (2023). Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression. European journal of medical genetics, 66(7), 104786. https://doi.org/10.1016/j.ejmg.2023.104786

3. Jacobse, J., Brown, R. E., Li, J., Pilat, J. M., Pham, L., Short, S. P., Peek, C. T., Rolong, A., Washington, M. K., Martinez-Barricarte, R., Byndloss, M. X., Shelton, C., Markle, J. G., Latour, Y. L., Allaman, M. M., Cassat, J. E., Wilson, K. T., Choksi, Y. A., Williams, C. S., Lau, K. S., … & Goettel, J. A. (2023). Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells. Cell reports, 42(2), 112128. Advance online publication. https://doi.org/10.1016/j.celrep.2023.112128

4. Patterson, A. R., Needle, G. A., Sugiura, A., Chi, C., Steiner, K. K., Fisher, E. L., Robertson, G. L., Bodnya, C., & Markle, J. G., Gama, V., & Rathmell, J. C. (2023). Functional Overlap of Inborn Errors of Immunity and Metabolism Genes Define T Cell Immunometabolic Vulnerabilities. bioRxiv : the preprint server for biology, 2023.01.24.525419. https://doi.org/10.1101/2023.01.24.525419

5. Agarwal, M., Ghimire, K., Cogan, J. D., Undiagnosed Disease Network, & Markle, J. (2022). WebSeq: A Genomic Data Analytics Platform for Monogenic Disease Discovery. Journal of Bioinformatics and Systems Biology. (6):01-09.

6. Patrick, A. E., Lyons, E. M., Ishii, L., Boyd, A. S., Choi, J. M., Dewan, A. K., & Markle, J. G. (2021). Case report: Infantile urticaria as a herald of neonatal onset multisystem inflammatory disease with a novel mutation in NLRP3. Frontiers in Immunology, 12. https://doi.org/10.3389/fimmu.2021.775140

7. Agarwal, M., Ghimire, K., Cogan, J. D., & Markle, J. (2021). WebSeq: A genomic data analytics platform for monogenic disease discovery. BioRxiv. https://doi.org/10.1101/2021.11.16.460500

8. Solis, B. G., Rym, A. V., Pérez-Caraballo, J. J., Ayoubi, A. A., Lorenzo, L., Cubillos-Zapata, C., López-Collazo, E., Markle, J., Fernández-Arquero, M., Sanchez-Ramon, S., Recio, M. J., Casanova, J.-L., Mohammed, R., Martinez-Barricarte, R., & de Diego, R. P. (2021). Clinical and immunological features of human BCL10 deficiency. Front. Immunol., 12. https://doi.org/10.21203/rs.3.rs-807424/v1

9. Lévy, R., Langlais, D., Béziat, V., Rapaport, F., Rao, G., Lazarov, T., Bourgey, M., Zhou, Y. J., Briand, C., Moriya, K., Ailal, F., Avery, D. T., Markle, J., Lim, A. I., Ogishi, M., Yang, R., Pelham, S., Emam, M., Migaud, M., … Puel, A. (2021). Inherited human C-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents. Journal of Clinical Investigation, 131(17). https://doi.org/10.1172/jci150143

10. Yang, R., Mele, F., Worley, L., Langlais, D., Rosain, J., Benhsaien, I., Elarabi, H., Croft, C. A., Doisne, J. M., Zhang, P., Weisshaar, M., Jarrossay, D., Latorre, D., Shen, Y., Han, J., Ogishi, M., Gruber, C., Markle, J., Al Ali, F., … Casanova, J. L. (2020). Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria. Cell, 183(7). https://doi.org/10.1016/j.cell.2020.10.046

11. Reeve, L., Preece, K., Markle, J., Casanova, J. L., & Walls, T. (2019). Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency. Journal of Paediatrics and Child Health, 56(5), 809–811. https://doi.org/10.1111/jpc.14690

12. Rosain, J., Kong, X. F., Martinez‐Barricarte, R., Oleaga‐Quintas, C., Ramirez‐Alejo, N., Markle, J., Okada, S., Boisson‐Dupuis, S., Casanova, J. L., & Bustamante, J. (2018). Mendelian susceptibility to mycobacterial disease: 2014–2018 update. Immunology & Cell Biology, 97(4), 360–367. https://doi.org/10.1111/imcb.12210

13. Martínez-Barricarte, R., Markle, J. G., Ma, C. S., Deenick, E. K., Ramírez-Alejo, N., Mele, F., Latorre, D., Mahdaviani, S. A., Aytekin, C., Mansouri, D., Bryant, V. L., Jabot-Hanin, F., Deswarte, C., Nieto-Patlán, A., Surace, L., Kerner, G., Itan, Y., Jovic, S., Avery, D. T., … Casanova, J.-L. (2018). Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23. Science Immunology, 3(30). https://doi.org/10.1126/sciimmunol.aau6759

14. Boisson-Dupuis, S., Ramirez-Alejo, N., Li, Z., Patin, E., Rao, G., Kerner, G., Lim, C. K., Krementsov, D. N., Hernandez, N., Ma, C. S., Zhang, Q., Markle, J., Martinez-Barricarte, R., Payne, K., Fisch, R., Deswarte, C., Halpern, J., Bouaziz, M., Mulwa, J., … Casanova, J.L. (2018). Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. Science Immunology, 3(30). https://doi.org/10.1126/sciimmunol.aau8714

15. Metz, K. A., Teng, X., Coppens, I., Lamb, H. M., Wagner, B. E., Rosenfeld, J. A., Chen, X., Zhang, Y., Kim, H. J., Meadow, M. E., Wang, T. S., Haberlandt, E. D., Anderson, G. W., Leshinsky-Silver, E., Bi, W., Markello, T. C., Pratt, M., Makhseed, N., Garnica, A., Danylchuk, N. R., Burrow, T. A., Jayakar, P., McKnight, D., Agadi, S., Gbedawo, H., Stanley, C., Alber, M., Prehl, I., Peariso, K., Ong, M. T., Mordekar, S. R., Parker, M. J., Crooks, D., Agrawal, P. B., Berry, G. T., Loddenkemper, T., Yang, Y., Maegawa, G. H. B., Aouacheria, A., Markle, J. G., Wohlschlegel, J. A., Hartman, A. L., & Hardwick, J. M.(2018). KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Annals of Neurology, 84(5), 766–780. https://doi.org/10.1002/ana.25351