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Omenn syndrome due to ARTEMIS mutations.
Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Ege M, et al. Among authors: schwarz k. Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24. Blood. 2005. PMID: 15731174 Free article.
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: schwarz k. 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.
Successful hematopoietic stem-cell transplantation in a patient with chronic granulomatous disease and McLeod phenotype sensitized to Kx and K antigens.
Hönig M, Flegel WA, Schwarz K, Freihorst JF, Baumann U, Seltsam A, Debatin KM, Schulz AS, Friedrich W. Hönig M, et al. Among authors: schwarz k. Bone Marrow Transplant. 2010 Jan;45(1):209-11. doi: 10.1038/bmt.2009.115. Epub 2009 Jun 8. Bone Marrow Transplant. 2010. PMID: 19503108 Free PMC article. No abstract available.
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
Regulated expression of nuclear receptor RORγt confers distinct functional fates to NK cell receptor-expressing RORγt(+) innate lymphocytes.
Vonarbourg C, Mortha A, Bui VL, Hernandez PP, Kiss EA, Hoyler T, Flach M, Bengsch B, Thimme R, Hölscher C, Hönig M, Pannicke U, Schwarz K, Ware CF, Finke D, Diefenbach A. Vonarbourg C, et al. Among authors: schwarz k. Immunity. 2010 Nov 24;33(5):736-51. doi: 10.1016/j.immuni.2010.10.017. Immunity. 2010. PMID: 21093318 Free PMC article.
1,625 results