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β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.
Ardeniz Ö, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerçeker B, Martin B, Fuchs I, Salzer U, İkincioğulları A, Güloğlu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K. Ardeniz Ö, et al. Among authors: schwarz k. J Allergy Clin Immunol. 2015 Aug;136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19. J Allergy Clin Immunol. 2015. PMID: 25702838
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Müller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S. Enders A, et al. Among authors: schwarz k. Blood. 2006 Jul 1;108(1):81-7. doi: 10.1182/blood-2005-11-4413. Epub 2006 Mar 21. Blood. 2006. PMID: 16551969 Free article.
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: schwarz k. 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.
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: schwarz k. 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.
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K. Pannicke U, et al. Among authors: schwarz k. Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168. Hum Mutat. 2010. PMID: 19953608
1,651 results