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The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ, Gonzalez Paredes P, de Almeida LP, Kosanke SD, Chetlur S, Budde H, Wakenight P, Zwingman TA, Rosen ABI, Allenspach EJ, Millen KJ, Buckner JH, Rawlings DJ, Gorman JA. Stock AJ, et al. Among authors: allenspach ej. Front Immunol. 2024 Feb 29;15:1349601. doi: 10.3389/fimmu.2024.1349601. eCollection 2024. Front Immunol. 2024. PMID: 38487540 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. Among authors: allenspach ej. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.
Cruz PD, Rylaarsdam S, Torgerson TR, Hagin D, Allenspach EJ. Cruz PD, et al. Among authors: allenspach ej. J Clin Immunol. 2023 Nov;43(8):1747-1750. doi: 10.1007/s10875-023-01557-w. Epub 2023 Jul 22. J Clin Immunol. 2023. PMID: 37481508 No abstract available.
Dysregulated IFN-γ signals promote autoimmunity in STAT1 gain-of-function syndrome.
Largent AD, Lambert K, Chiang K, Shumlak N, Liggitt D, Oukka M, Torgerson TR, Buckner JH, Allenspach EJ, Rawlings DJ, Jackson SW. Largent AD, et al. Among authors: allenspach ej. Sci Transl Med. 2023 Jul 5;15(703):eade7028. doi: 10.1126/scitranslmed.ade7028. Epub 2023 Jul 5. Sci Transl Med. 2023. PMID: 37406138
STAT6 joins the gain-of-function club.
Chen K, Ochs HD, Allenspach EJ. Chen K, et al. Among authors: allenspach ej. J Allergy Clin Immunol. 2023 Jul;152(1):53-55. doi: 10.1016/j.jaci.2023.05.003. Epub 2023 May 14. J Allergy Clin Immunol. 2023. PMID: 37192684 No abstract available.
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. Among authors: allenspach ej. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Børresen ML, Thompson BJ, Stremenova Spegarova J, Hatton CF, Stæger FF, Andersen MK, Whittaker J, Paludan SR, Jørgensen SE, Thomsen MK, Mikkelsen JG, Heilmann C, Buhas D, Øbro NF, Bay JT, Marquart HV, de la Morena MT, Klejka JA, Hirschfeld M, Borgwardt L, Forss I, Masmas T, Poulsen A, Noya F, Rouleau G, Hansen T, Zhou S, Albrechtsen A, Alizadehfar R, Allenspach EJ, Hambleton S, Mogensen TH. Duncan CJA, et al. Among authors: allenspach ej. J Exp Med. 2022 Jun 6;219(6):e20212427. doi: 10.1084/jem.20212427. Epub 2022 Apr 20. J Exp Med. 2022. PMID: 35442417 Free PMC article.
41 results