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Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient

2021 . Thalhammer, Julian | Maccari, Maria Elena | Wegehaupt, Oliver | Ehl, Stephan | Speckmann, Carsten

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

2021 . Hainz, Daniela | Krüger, Marcus | Reber, Daniela | Mehnert, Karl | Brunet, Theresa | Lederer, Gabriele | Langer-Freitag, Sabine | Hoefele, Julia

Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency

2021 . Eichinger, Anna | von Bernuth, Horst | Dedieu, Cinzia | Schroeder, Sebastian A. | la Marca, Giancarlo | Albert, Michael H. | Hauck, Fabian

BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center

2021 . Cocchi, Nicoletta | Jacobsen, Eva-Maria | Hoenig, Manfred | Schulz, Ansgar | Schuetz, Catharina

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation

2021 . Meinhardt, Andrea | Ramos, Paula C. | Dohmen, R. Jürgen | Lucas, Nadja | Lee-Kirsch, Min Ae | Becker, Benjamin | de Laffolie, Jan | Cunha, Tomás | Niehues, Tim | Salzer, Ulrich | Yoshimi, Ayami | Erlacher, Miriam | Peters, Anke M. J. | Ehl, Stephan | Strahm, Brigitte | Speckmann, Carsten

Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient

2020 . Wegehaupt, Oliver | Muckenhaupt, Tina | Johnson, Matthew B | Schwab, Karl Otfried | Speckmann, Carsten