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Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in man

, PhD, , MD PhD, , PhD & , PhD
Pages 1003-1021 | Published online: 02 Jun 2011

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Burcu Bestas, Janne J. Turunen, K. Emelie M. Blomberg, Qing Wang, Robert Månsson, Samir EL Andaloussi, Anna Berglöf & C. I. Edvard Smith. (2015) Splice-Correction Strategies for Treatment of X-Linked Agammaglobulinemia. Current Allergy and Asthma Reports 15:3.
Crossref
Odilia B. J. Corneth, Roel G. J. Klein Wolterink & Rudi W. Hendriks. 2016. B Cell Receptor Signaling. B Cell Receptor Signaling 67 105 .
Adrian Wiestner. (2014) BCR pathway inhibition as therapy for chronic lymphocytic leukemia and lymphoplasmacytic lymphoma. Hematology 2014:1, pages 125-134.
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Crossref
Ger T. Rijkers, Jan G.M.C. Damoiseaux & Herbert Hooijkaas. (2014) Medical immunology: Two-way bridge connecting bench and bedside. Immunology Letters 162:2, pages 127-133.
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Crossref
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Crossref
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Crossref
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Crossref
Adrian Wiestner. (2013) Targeting B-Cell Receptor Signaling for Anticancer Therapy: The Bruton's Tyrosine Kinase Inhibitor Ibrutinib Induces Impressive Responses in B-Cell Malignancies. Journal of Clinical Oncology 31:1, pages 128-130.
Crossref
Carsten U. Niemann, Jade Jones & Adrian Wiestner. 2013. Advances in Chronic Lymphocytic Leukemia. Advances in Chronic Lymphocytic Leukemia 259 291 .
Laurens P. KilMarjolein J. W. de BruijnMenno van NimwegenOdilia B. J. CornethJan Piet van HamburgGemma M. DingjanFriedrich ThaissGuus F. RimmelzwaanDirk Elewaut, Dianne Delsing, Pieter Fokko van LooRudi W. Hendriks. (2012) Btk levels set the threshold for B-cell activation and negative selection of autoreactive B cells in mice. Blood 119:16, pages 3744-3756.
Crossref
Miriam Hoernes, Reinhard Seger & Janine Reichenbach. (2011) Modern management of primary B-cell immunodeficiencies. Pediatric Allergy and Immunology 22:8, pages 758-769.
Crossref

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