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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: masmas t. 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.
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, Marvig RL, Katzenstein TL, Masmas TN, Lundgren J, Murray DD, Helleberg M, Borgwardt L. Mørup SB, et al. Front Immunol. 2022 Jun 30;13:906328. doi: 10.3389/fimmu.2022.906328. eCollection 2022. Front Immunol. 2022. PMID: 35874679 Free PMC article. Review.
A novel DOCK2 variant in siblings with severe combined immunodeficiency.
Bruusgaard-Mouritsen MA, Masmas T, Borgwardt L, Nazaryan-Petersen L, Heilmann C, Madsen HO, Vibeke Marquart H. Bruusgaard-Mouritsen MA, et al. Among authors: masmas t. Scand J Immunol. 2023 Mar;97(3):e13243. doi: 10.1111/sji.13243. Epub 2023 Jan 12. Scand J Immunol. 2023. PMID: 36541113 Free article. No abstract available.
Chimerism studies in HLA-identical nonmyeloablative hematopoietic stem cell transplantation point to the donor CD8(+) T-cell count on day + 14 as a predictor of acute graft-versus-host disease.
Petersen SL, Madsen HO, Ryder LP, Svejgaard A, Masmas TN, Dickmeiss E, Heilmann C, Vindeløv LL. Petersen SL, et al. Biol Blood Marrow Transplant. 2004 May;10(5):337-46. doi: 10.1016/j.bbmt.2004.01.003. Biol Blood Marrow Transplant. 2004. PMID: 15111933 Free article. Clinical Trial.
41 results