Catherina Schuetz

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The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates overall survival rates greater than 75 % for T-B-NK+ severe combined immunodeficiency secondary to pathogenic mutation of recombinase activating genes 1 and 2 (RAG1/2). Limited data exist regarding the use of HSCT in patients with hypomorphic RAG variants marked by greater(More)
Objective Cryopyrin-associated periodic syndrome (CAPS) is a heterogeneous group of diseases characterized by excessive Interleukin-1b (IL-1 b) release resulting in severe systemic and organ inflammation. Canakinumab targets IL-1b and is approved at standard dose for children and adults with all CAPS phenotypes. Limited data are available regarding(More)
The patient is the 4th child of a consanguineous Turkish couple. She was diagnosed with CMV-pneumonitis at 7 months of age. In addition she presented with pernio-like skin lesions of cheeks and ear lobes. Immunologically she was hypergammaglobulinemic for her age (IgG 11,5 g/l), her T-cell subpopulations, T-cell-proliferation to mitogens, number of Band(More)
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