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Immunodeficiency associated with a nonsense mutation of IKBKB.
Nielsen C, Jakobsen MA, Larsen MJ, Müller AC, Hansen S, Lillevang ST, Fisker N, Barington T. Nielsen C, et al. Among authors: jakobsen ma. J Clin Immunol. 2014 Nov;34(8):916-21. doi: 10.1007/s10875-014-0097-1. Epub 2014 Sep 14. J Clin Immunol. 2014. PMID: 25216719
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK, Pucholt P, Hultin Rosenberg L, Farias FHG, Kozyrev SV, Eloranta ML, Alexsson A, Bianchi M, Padyukov L, Bengtsson C, Jonsson R, Omdal R, Lie BA, Massarenti L, Steffensen R, Jakobsen MA, Lillevang ST; ImmunoArray Development Consortium and DISSECT consortium; Lerang K, Molberg Ø, Voss A, Troldborg A, Jacobsen S, Syvänen AC, Jönsen A, Gunnarsson I, Svenungsson E, Rantapää-Dahlqvist S, Bengtsson AA, Sjöwall C, Leonard D, Lindblad-Toh K, Rönnblom L. Sandling JK, et al. Among authors: jakobsen ma. Ann Rheum Dis. 2021 Jan;80(1):109-117. doi: 10.1136/annrheumdis-2020-218636. Epub 2020 Oct 9. Ann Rheum Dis. 2021. PMID: 33037003 Free PMC article.
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K, Jørgensen SE, Sandgaard KS, De Keukeleere K, B-Hansen M, Petersen MS, Hartling UB, Vaal TMK, Nielsen C, Jakobsen MA, Watt E, Adams S, Hao Q, Fagerberg C, Mogensen TH. Assing K, et al. Among authors: jakobsen ma. J Clin Immunol. 2023 Nov;43(8):1927-1940. doi: 10.1007/s10875-023-01561-0. Epub 2023 Aug 15. J Clin Immunol. 2023. PMID: 37581646 Free PMC article.
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector.
Gaspar HB, Parsley KL, Howe S, King D, Gilmour KC, Sinclair J, Brouns G, Schmidt M, Von Kalle C, Barington T, Jakobsen MA, Christensen HO, Al Ghonaium A, White HN, Smith JL, Levinsky RJ, Ali RR, Kinnon C, Thrasher AJ. Gaspar HB, et al. Among authors: jakobsen ma. Lancet. 2004 Dec 18-31;364(9452):2181-7. doi: 10.1016/S0140-6736(04)17590-9. Lancet. 2004. PMID: 15610804
47 results