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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: fisch p. 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.
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. Fuchs S, et al. Among authors: fisch p. Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19. Blood. 2015. PMID: 26289640 Free PMC article.
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M. Janda A, et al. Among authors: fisch p. Blood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23. Blood. 2016. PMID: 26907631 Free article.
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.
Rakhmanov M, Keller B, Gutenberger S, Foerster C, Hoenig M, Driessen G, van der Burg M, van Dongen JJ, Wiech E, Visentini M, Quinti I, Prasse A, Voelxen N, Salzer U, Goldacker S, Fisch P, Eibel H, Schwarz K, Peter HH, Warnatz K. Rakhmanov M, et al. Among authors: fisch p. Proc Natl Acad Sci U S A. 2009 Aug 11;106(32):13451-6. doi: 10.1073/pnas.0901984106. Epub 2009 Jul 29. Proc Natl Acad Sci U S A. 2009. PMID: 19666505 Free PMC article.
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner SÜ, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B. Volk T, et al. Among authors: fisch p. Hum Mol Genet. 2015 Dec 20;24(25):7361-72. doi: 10.1093/hmg/ddv437. Epub 2015 Oct 16. Hum Mol Genet. 2015. PMID: 26476407 Free PMC article.
147 results