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Page 1
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Speckmann C, Pannicke U, Wiech E, Schwarz K, Fisch P, Friedrich W, Niehues T, Gilmour K, Buiting K, Schlesier M, Eibel H, Rohr J, Superti-Furga A, Gross-Wieltsch U, Ehl S. Speckmann C, et al. Among authors: friedrich w. Blood. 2008 Nov 15;112(10):4090-7. doi: 10.1182/blood-2008-04-153361. Epub 2008 Aug 26. Blood. 2008. PMID: 18728247 Free article.
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.
Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S. Enders A, et al. Among authors: friedrich w. J Immunol. 2006 Apr 15;176(8):5060-8. doi: 10.4049/jimmunol.176.8.5060. J Immunol. 2006. PMID: 16585603
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.
Hönig M, Albert MH, Schulz A, Sparber-Sauer M, Schütz C, Belohradsky B, Güngör T, Rojewski MT, Bode H, Pannicke U, Lippold D, Schwarz K, Debatin KM, Hershfield MS, Friedrich W. Hönig M, et al. Among authors: friedrich w. Blood. 2007 Apr 15;109(8):3595-602. doi: 10.1182/blood-2006-07-034678. Epub 2006 Dec 21. Blood. 2007. PMID: 17185467 Free article.
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, Schwarz K, Schulz AS, Hoenig M, Sparber-Sauer M, Gatz SA, Denzer C, Blanche S, Moshous D, Picard C, Horn BN, de Villartay JP, Cavazzana M, Debatin KM, Friedrich W, Fischer A, Cowan MJ. Schuetz C, et al. Among authors: friedrich w. Blood. 2014 Jan 9;123(2):281-9. doi: 10.1182/blood-2013-01-476432. Epub 2013 Oct 21. Blood. 2014. PMID: 24144642 Free PMC article.
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T. Schuetz C, et al. Among authors: friedrich w. N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966. N Engl J Med. 2008. PMID: 18463379 Free article.
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: friedrich w. 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: friedrich w. 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: friedrich w. 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.
Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort.
Lankester AC, Neven B, Mahlaoui N, von Asmuth EGJ, Courteille V, Alligon M, Albert MH, Serra IB, Bader P, Balashov D, Beier R, Bertrand Y, Blanche S, Bordon V, Bredius RG, Cant A, Cavazzana M, Diaz-de-Heredia C, Dogu F, Ehlert K, Entz-Werle N, Fasth A, Ferrua F, Ferster A, Formankova R, Friedrich W, Gonzalez-Vicent M, Gozdzik J, Güngör T, Hoenig M, Ikinciogullari A, Kalwak K, Kansoy S, Kupesiz A, Lanfranchi A, Lindemans CA, Meisel R, Michel G, Miranda NAA, Moraleda J, Moshous D, Pichler H, Rao K, Sedlacek P, Slatter M, Soncini E, Speckmann C, Sundin M, Toren A, Vettenranta K, Worth A, Yeşilipek MA, Zecca M, Porta F, Schulz A, Veys P, Fischer A, Gennery AR. Lankester AC, et al. Among authors: friedrich w. J Allergy Clin Immunol. 2022 May;149(5):1744-1754.e8. doi: 10.1016/j.jaci.2021.10.017. Epub 2021 Oct 27. J Allergy Clin Immunol. 2022. PMID: 34718043 Free article.
342 results