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Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.
Jørgensen SE, Bøttger P, Kofod-Olsen E, Holm M, Mørk N, Ørntoft TF, Sørensen UBS, Bernth-Jensen JM, Herlin T, Veirum J, Larsen CS, Østergaard L, Hartmann R, Christiansen M, Mogensen TH. Jørgensen SE, et al. Among authors: holm m. J Allergy Clin Immunol. 2016 Dec;138(6):1706-1709.e4. doi: 10.1016/j.jaci.2016.05.030. Epub 2016 Jun 29. J Allergy Clin Immunol. 2016. PMID: 27477329 No abstract available.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA. Dimitrova D, et al. Among authors: holm m. J Allergy Clin Immunol. 2022 Jan;149(1):410-421.e7. doi: 10.1016/j.jaci.2021.04.036. Epub 2021 May 24. J Allergy Clin Immunol. 2022. PMID: 34033842 Free PMC article.
765 results