Karin Beutel

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Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder characterized by hyperactive phagocytes and defects in natural killer cell function. It has been shown previously that mutations in the perforin 1 gene (PRF1) and in UNC13D are associated with FHL2 and FHL3, respectively, indicating genetic heterogeneity. We performed(More)
Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune regulation caused by defects in lymphocyte cytotoxicity. Rapid differentiation of primary, genetic forms from secondary forms of hemophagocytic lymphohistiocytosis (HLH) is crucial for treatment decisions. We prospectively evaluated the performance of degranulation(More)
and third-generation oral contraceptives: acquired resistance to activated protein C, oral contraceptives and the risk of thromboembolic disease. Effect of second-and third-generation oral contraceptives on the protein C system in the absence or presence of the factor VLeiden mutation: a randomized trial. Effects of hereditary and acquired risk factors of(More)
OBJECTIVES Although a paediatric dosage has not been established, caspofungin is occasionally used in paediatric patients. We conducted a multicentre retrospective survey to obtain data on immunocompromised paediatric patients considered to require caspofungin therapy. METHODS The survey identified 64 patients (median age: 11.5 years; 25 females, 39(More)
dysplasia was detected in 32 cases (25%), a frequency similar to that reported by Falini, and was associated with a higher proportion of normal karyotype (93% vs 60%; P Ͻ .001), lower leukocyte count at diagnosis (32 ϫ 10 9 /L vs 69 ϫ 10 9 /L; P ϭ .01), and lower bone marrow infiltration (51% vs 72% blast cells, P Ͻ .001). Interestingly, the frequency of(More)
Inhibitor development is a rare but serious event in hemophilia B patients. Management is hampered by the frequent occurrence of allergic reactions to factor IX, low success rates of current inhibitor elimination protocols and the risk of development of nephrotic syndrome. Single cases of immune tolerance induction (ITI) including immunosuppressive agents(More)
We describe a female neonate with an oral teratoma showing bone, teeth, and epidermis, but also epididymal (male) tissue. PCR amplification of Y-chromosomal DNA clearly showed male DNA from paraffin-embedded tumour tissue. The girl had a normal female karyotype without abnormalities of the genital organs. There are at least three hypotheses for the origin(More)
UNLABELLED We have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the phenotype and the molecular defect of VWF. The diagnosis of VWD type 2 was mainly based on VWF functional parameters and/or an aberrant VWF multimer pattern. Seventeen different mutations(More)
Familial hemophagocytic lymphohistiocy-tosis (FHL) is a life-threatening disorder of immune regulation caused by defects in lymphocyte cytotoxicity. Rapid differentiation of primary, genetic forms from secondary forms of hemophagocytic lym-phohistiocytosis (HLH) is crucial for treatment decisions. We prospectively evalu
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