Publications
Selected Recent Publications From the Orange Lab
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24. PubMed PMID: 29805043; PubMed Central PMCID: PMC5992134.
Gwalani LA, Orange JS. Single Degranulations in NK Cells Can Mediate Target Cell Killing. J Immunol. 2018 May 1;200(9):3231-3243. doi: 10.4049/jimmunol.1701500. Epub 2018 Mar 28. PubMed PMID: 29592963; PubMed Central PMCID: PMC6020067.
Carisey AF, Mace EM, Saeed MB, Davis DM, Orange JS. Nanoscale Dynamism of Actin Enables Secretory Function in Cytolytic Cells. Curr Biol. 2018 Feb 19;28(4):489-502.e9. doi: 10.1016/j.cub.2017.12.044. Epub 2018 Feb 1. PubMed PMID: 29398219; PubMed Central PMCID: PMC5835143.
Mamonkin, M, Mukherjee, M, Srinivasan, M, Sharma, S, Gomes-Silva, D, Mo, F, Krenciute, G, Orange, JS, Brenner, MK. Reversible transgene expression reduces fratricide and permits 4-1BB costimulation of CAR T cells directed to T cell malignancies. 2017 Cancer Immunol. Res. PMID: 29076555
Hsu HT, Mace EM, Carisey AF, Viswanath DI, Christakou AE, Wiklund M, Önfelt B, Orange JS. NK cells converge lytic granules to promote cytotoxicity and prevent bystander killing. J Cell Biol. 2016 Dec 19;215(6):875-889. Epub 2016 Nov 30. PubMed PMID: 27903610; PubMed Central PMCID: PMC516649
Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Stray-Pedersen A, Coban Akdemir Z, Smith JB, Hernández-Sanabria M, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ, Gibbs RA, Holland SM, Caligiuri MA, Ozato K, Paust S, Doody GM, Lupski JR, Orange JS. Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 Jan 3;127(1):306-320. doi: 10.1172/JCI86276. Epub 2016 Nov 28. PubMed PMID: 27893462; PubMed Central PMCID: PMC5199714.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832. PubMed PMID: 27577878; PubMed Central PMCID: PMC5222743.
Hegde M, Mukherjee M, Grada Z, Pignata A, Landi D, Navai SA, Wakefield A, Fousek K, Bielamowicz K, Chow KK, Brawley VS, Byrd TT, Krebs S, Gottschalk S, Wels WS, Baker ML, Dotti G, Mamonkin M, Brenner MK, Orange JS, Ahmed N. Tandem CAR T cells targeting HER2 and IL13Rα2 mitigate tumor antigen escape. J Clin Invest. 2016 Aug 1;126(8):3036-52. doi: 10.1172/JCI83416. Epub 2016 Jul 18. PubMed PMID: 27427982; PubMed Central PMCID: PMC4966331
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20. PubMed PMID: 25894502; PubMed Central PMCID: PMC4513663.
Mace EM, Orange JS. Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A. Proc Natl Acad Sci U S A. 2014 May 6;111(18):6708-13. doi: 10.1073/pnas.1314975111. Epub 2014 Apr 23. PubMed PMID: 24760828; PubMed Central PMCID: PMC4020046.