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Year Number of Results
1993 1
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2002 1
2003 1
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2008 2
2009 2
2010 2
2011 1
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2016 1
2017 2
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2025 2

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78 results

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Page 1
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: allenspach e. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. de Jesus AA, et al. Among authors: allenspach e. J Clin Invest. 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. J Clin Invest. 2020. PMID: 31874111 Free PMC article. Clinical Trial.
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 Free PMC article.
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.
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ. Baysac K, et al. J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036. Epub 2023 Sep 26. J Allergy Clin Immunol. 2024. PMID: 37769878 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.
Interleukin (IL)-1/IL-6-Inhibitor-Associated Drug Reaction With Eosinophilia and Systemic Symptoms (DReSS) in Systemic Inflammatory Illnesses.
Saper VE, Tian L, Verstegen RHJ, Conrad CK, Cidon M, Hopper RK, Kuo CS, Osoegawa K, Baszis K, Bingham CA, Ferguson I, Hahn T, Horne A, Isupova EA, Jones JT, Kasapcopur Ö, Klein-Gitelman MS, Kostik MM, Ozen S, Phadke O, Prahalad S, Randell RL, Sener S, Stingl C, Abdul-Aziz R, Akoghlanian S, Al Julandani D, Alvarez MB, Bader-Meunier B, Balay-Dustrude EE, Balboni I, Baxter SK, Berard RA, Bhattad S, Bolaria R, Boneparth A, Cassidy EA, Co DO, Collins KP, Dancey P, Dickinson AM, Edelheit BS, Espada G, Flanagan ER, Imundo LF, Jindal AK, Kim HA, Klaus G, Lake C, Lapin WB, Lawson EF, Marmor I, Mombourquette J, Ogunjimi B, Olveda R, Ombrello MJ, Onel K, Poholek C, Ramanan AV, Ravelli A, Reinhardt A, Robinson AD, Rouster-Stevens K, Saad N, Schneider R, Selmanovic V, Sefic Pasic I, Shenoi S, Shilo NR, Soep JB, Sura A, Taber SF, Tesher M, Tibaldi J, Torok KS, Tsin CM, Vasquez-Canizares N, Villacis Nunez DS, Way EE, Whitehead B, Zemel LS, Sharma S, Fernández-Viña MA, Mellins ED; CARRA Registry Investigators. Saper VE, et al. J Allergy Clin Immunol Pract. 2024 Nov;12(11):2996-3013.e7. doi: 10.1016/j.jaip.2024.07.002. Epub 2024 Aug 15. J Allergy Clin Immunol Pract. 2024. PMID: 39002722
Autoimmunity and Primary Immunodeficiency Disorders.
Allenspach E, Torgerson TR. Allenspach E, et al. J Clin Immunol. 2016 May;36 Suppl 1:57-67. doi: 10.1007/s10875-016-0294-1. Epub 2016 May 23. J Clin Immunol. 2016. PMID: 27210535 Review.
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.
78 results