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Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.
Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, Magg T, Boos AC, Hönig M, Schwarz K, Dückers G, von Bernuth H, Pache C, Karitnig-Weiss C, Belohradsky BH, Frank J, Niehues T, Wahn V, Albert MH, Wollenberg A, Jansson AF, Renner ED. Hagl B, et al. Among authors: schwarz k. Pediatr Allergy Immunol. 2016 Mar;27(2):177-84. doi: 10.1111/pai.12512. Epub 2016 Jan 26. Pediatr Allergy Immunol. 2016. PMID: 26592211
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.
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: schwarz k. N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966. N Engl J Med. 2008. PMID: 18463379 Free 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
1,650 results