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Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.
Schuetz C, Pannicke U, Jacobsen EM, Burggraf S, Albert MH, Hönig M, Niehues T, Feyen O, Ehl S, Debatin KM, Friedrich W, Schulz AS, Schwarz K. Schuetz C, et al. Among authors: jacobsen em. J Allergy Clin Immunol. 2014 Apr;133(4):1211-5. doi: 10.1016/j.jaci.2013.10.021. Epub 2013 Dec 10. J Allergy Clin Immunol. 2014. PMID: 24331380 No abstract available.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Hoenig M, et al. Among authors: jacobsen em. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22. Blood. 2017. PMID: 28331055 Free PMC article. Clinical Trial.
Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency.
Ege MJ, Schuetz C, Jacobsen EM, Müller-Langer SM, Furlan I, Sirin M, Pannicke U, Schwarz K, Debatin KM, Hönig M, Schulz A, Friedrich W. Ege MJ, et al. Among authors: jacobsen em. J Allergy Clin Immunol. 2019 Apr;143(4):1623-1626.e13. doi: 10.1016/j.jaci.2018.11.027. Epub 2018 Dec 7. J Allergy Clin Immunol. 2019. PMID: 30529243 No abstract available.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: jacobsen em. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.
Wu Z, Subramanian N, Jacobsen EM, Laib Sampaio K, van der Merwe J, Hönig M, Mertens T. Wu Z, et al. Among authors: jacobsen em. Microorganisms. 2019 Nov 10;7(11):546. doi: 10.3390/microorganisms7110546. Microorganisms. 2019. PMID: 31717670 Free PMC article.
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies.
Hoenig M, Roesler J, Seidel MG, Albert MH, Hauck F, Maecker-Kolhoff B, Eiz-Vesper B, Kleinschmidt K, Debatin KM, Jacobsen EM, Furlan I, Suttorp M, Schuetz C, Schulz AS. Hoenig M, et al. Among authors: jacobsen em. Transplant Cell Ther. 2021 Jan;27(1):93.e1-93.e8. doi: 10.1016/j.bbmt.2020.09.037. Epub 2020 Oct 3. Transplant Cell Ther. 2021. PMID: 33022377 Free article.
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Bienias M, Gabrielyan A, Geberzahn L, Rösen-Wolff A, Huebner A, Jacobsen EM, Toepfner N, Fang M, Lee-Kirsch MA, Roesler J, Schuetz C. Bienias M, et al. Among authors: jacobsen em. Pediatr Allergy Immunol. 2021 May;32(4):793-797. doi: 10.1111/pai.13441. Epub 2021 Jan 19. Pediatr Allergy Immunol. 2021. PMID: 33369776 No abstract available.
90 results