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Year Number of Results
2016 9
2017 8
2018 7
2019 12
2020 10
2021 8
2022 5
2023 3
2024 2

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53 results

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Page 1
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR. Alinger JB, et al. J Allergy Clin Immunol. 2024 Jan;153(1):216-229. doi: 10.1016/j.jaci.2023.09.002. Epub 2023 Sep 13. J Allergy Clin Immunol. 2024. PMID: 37714437
An ELF4 hypomorphic variant results in NK cell deficiency.
Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. Salinas SA, et al. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells.
Lisco A, Hsu AP, Dimitrova D, Proctor DM, Mace EM, Ye P, Anderson MV, Hicks SN, Grivas C, Hammoud DA, Manion M, Starrett GJ, Farrel A, Dobbs K, Brownell I, Buck C, Notarangelo LD, Orange JS, Leonard WJ, Orestes MI, Peters AT, Kanakry JA, Segre JA, Kong HH, Sereti I. Lisco A, et al. N Engl J Med. 2021 Sep 2;385(10):921-929. doi: 10.1056/NEJMoa2102715. N Engl J Med. 2021. PMID: 34469647 Free PMC article.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK. Forbes LR, et al. J Allergy Clin Immunol. 2022 Feb;149(2):758-766. doi: 10.1016/j.jaci.2021.07.015. Epub 2021 Jul 28. J Allergy Clin Immunol. 2022. PMID: 34329649 Free PMC article.
Short stature and combined immunodeficiency associated with mutations in RGS10.
Chinn IK, Xie Z, Chan EC, Nagata BM, Koval A, Chen WS, Zhang F, Ganesan S, Hong DN, Suzuki M, Nardone G, Moore IN, Katanaev VL, Balazs AE, Liu C, Lupski JR, Orange JS, Druey KM. Chinn IK, et al. Sci Signal. 2021 Jul 27;14(693):eabc1940. doi: 10.1126/scisignal.abc1940. Sci Signal. 2021. PMID: 34315806 Free PMC article.
53 results