Tanja C. Bittner

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A large proportion of patients with mutations in the Wiskott-Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Whereas stem cell transplantation at an early age is the treatment of choice for patients with WAS, therapeutic options for patients with XLT are controversial. In a retrospective multicenter(More)
Autosomal dominant hyper-IgE syndrome (AD-HIES), characterised by eczema, increased susceptibility to skin and lung infections, elevated IgE and skeletal abnormalities is associated with heterozygous STAT3 mutations. The autosomal recessive variant (AR-HIES) has similar immunological findings but mainly lacks extraimmune manifestations. Several AR-HIES(More)
X-linked thrombocytopenia (XLT) is a mild form of the Wiskott-Aldrich syndrome (WAS) caused by mutations in the WAS gene. A recent retrospective study of the clinical outcome and molecular basis of a large cohort of XLT patients demonstrated that although overall survival is excellent, event free survival is severely affected with conservative treatment. To(More)
Michael H. Albert,1 Tanja C. Bittner,1 Shigeaki Nonoyama,2 Lucia Dora Notarangelo,3 Siobhan Burns,4 Kohsuke Imai,2 Teresa Espanol,5 Anders Fasth,6 Isabelle Pellier,7 Gabriele Strauss,8 Tomohiro Morio,9 Benjamin Gathmann,10 Jeroen G. Noordzij,11 Cristina Fillat,12 Manfred Hoenig,13 Michaela Nathrath,14 Alfons Meindl,15 Philipp Pagel,16 Uwe Wintergerst,17(More)
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