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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2002 3
2003 2
2005 2
2006 3
2007 3
2008 4
2009 5
2010 6
2011 8
2012 12
2013 4
2014 3
2015 9
2016 5
2017 8
2018 9
2019 16
2020 18
2021 16
2022 10
2023 9
2024 4

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140 results

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Page 1
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL. Oda H, et al. Among authors: aksentijevich i. Nat Immunol. 2024 May;25(5):764-777. doi: 10.1038/s41590-024-01817-w. Epub 2024 Apr 12. Nat Immunol. 2024. PMID: 38609546
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Lee W, Stone DL, Hoffmann P, Rosenzweig S, Tsai WL, Gadina M, Romeo T, Lee CR, Randazzo D, Pimpale Chavan P, Manthiram K, Canna S, Park YH, Ombrello AK, Aksentijevich I, Kastner DL, Chae JJ. Lee W, et al. Among authors: aksentijevich i. Ann Rheum Dis. 2024 Feb 26:ard-2023-225085. doi: 10.1136/ard-2023-225085. Online ahead of print. Ann Rheum Dis. 2024. PMID: 38408849 Free article.
How to Build a Fire: The Genetics of Autoinflammatory Diseases.
Zhang J, Lee PY, Aksentijevich I, Zhou Q. Zhang J, et al. Among authors: aksentijevich i. Annu Rev Genet. 2023 Nov 27;57:245-274. doi: 10.1146/annurev-genet-030123-084224. Epub 2023 Aug 10. Annu Rev Genet. 2023. PMID: 37562411 Free article. Review.
A gain-of-function variation in PLCG1 causes a new immune dysregulation disease.
Tao P, Han X, Wang Q, Wang S, Zhang J, Liu L, Fan X, Liu C, Liu M, Guo L, Lee PY, Aksentijevich I, Zhou Q. Tao P, et al. Among authors: aksentijevich i. J Allergy Clin Immunol. 2023 Nov;152(5):1292-1302. doi: 10.1016/j.jaci.2023.06.020. Epub 2023 Jul 6. J Allergy Clin Immunol. 2023. PMID: 37422272
T cell repertoire breadth is associated with the number of acute respiratory infections in the LoewenKIDS birth cohort.
Paschold L, Gottschick C, Langer S, Klee B, Diexer S, Aksentijevich I, Schultheiß C, Purschke O, Riese P, Trittel S, Haase R, Dressler F, Eberl W, Hübner J, Strowig T, Guzman CA, Mikolajczyk R, Binder M. Paschold L, et al. Among authors: aksentijevich i. Sci Rep. 2023 Jun 12;13(1):9516. doi: 10.1038/s41598-023-36144-x. Sci Rep. 2023. PMID: 37308563 Free PMC article.
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK; DADA2 Foundation. Lee PY, et al. Among authors: aksentijevich i. JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894. JAMA Netw Open. 2023. PMID: 37256629 Free article. Review.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, Savostyanov K, Pushkov A, Zhanin I, Raykina E, Kurnikova M, Mersiyanova I, Platt CD, Jee H, Brodeur K, Du Y, Liu M, Weiss A, Schulert GS, Rodriguez-Smith J, Hershfield MS, Aksentijevich I, Zhou Q, Nigrovic PA, Shcherbina A, Alexeeva E, Lee PY. Chen L, et al. Among authors: aksentijevich i. J Allergy Clin Immunol. 2023 Sep;152(3):771-782. doi: 10.1016/j.jaci.2023.04.014. Epub 2023 May 5. J Allergy Clin Immunol. 2023. PMID: 37150360
140 results