Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.

Autor: Kobayashi ES; Rady Children's Institute for Genomic Medicine, San Diego, CA; Division of Critical Care, Department of Pediatrics, Children's Hospital Orange County, Orange, CA., Lotan NS; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Schejter YD; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel; The Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Jerusalem, Israel., Makowski C; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany; Technical University of Munich, Munich, Germany; Department of Pediatrics, TUM School of Medicine, Munich, Germany., Kraus V; Technical University of Munich, Munich, Germany; Department of Pediatrics, TUM School of Medicine, Munich, Germany., Ramchandar N; Division of Infectious Disease, Department of Pediatrics, University of California at San Diego, La Jolla, CA., Meiner V; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Thiffault I; Children's Mercy Research Institute, Kansas City, MO., Farrow E; Children's Mercy Research Institute, Kansas City, MO., Cakici J; Herbert Wertheim School of Public Health and Human Longevity Science, University of California, San Diego, San Diego, CA., Kingsmore S; Rady Children's Institute for Genomic Medicine, San Diego, CA., Wagner M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Rieber N; Technical University of Munich, Munich, Germany; Department of Pediatrics, TUM School of Medicine, Munich, Germany., Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA. Electronic address: MBainbridge@rchsd.org.

Publikováno v: The Journal of pediatrics [J Pediatr] 2024 Nov; Vol. 274, pp. 114180. Date of Electronic Publication: 2024 Jul 05.

Current concepts of immune dysregulation in cystic fibrosis

Autor: Rieber, N., Hector, A., Carevic, M., Hartl, D.

Publikováno v: In International Journal of Biochemistry and Cell Biology July 2014 52:108-112

Cough-induced chylothorax in a two-year-old boy - case report and review of the literature.

Autor: Anger M; Department of Pediatrics, Kinderklinik München Schwabing, Munich Klinik and School of Medicine, Technical University of Munich, Kölner Platz 1, 80804, Munich, Germany., Hofmann J; Department of Pediatrics, Kinderklinik München Schwabing, Munich Klinik and School of Medicine, Technical University of Munich, Kölner Platz 1, 80804, Munich, Germany., Ruf B; Department of Pediatric Cardiology and Congenital Heart Disease, German Heart Center Munich, Technical University of Munich, Munich, Germany., Steinborn M; Department of Diagnostic and Interventional and Pediatric Radiology, Kinderklinik München Schwabing, Munich, Germany., Reber D; Department of Pediatrics, Kinderklinik München Schwabing, Munich Klinik and School of Medicine, Technical University of Munich, Kölner Platz 1, 80804, Munich, Germany., Warncke K; Department of Pediatrics, Kinderklinik München Schwabing, Munich Klinik and School of Medicine, Technical University of Munich, Kölner Platz 1, 80804, Munich, Germany., Rieber N; Department of Pediatrics, Kinderklinik München Schwabing, Munich Klinik and School of Medicine, Technical University of Munich, Kölner Platz 1, 80804, Munich, Germany. nikolaus.rieber@mri.tum.de.

Publikováno v: BMC pediatrics [BMC Pediatr] 2023 Aug 23; Vol. 23 (1), pp. 416. Date of Electronic Publication: 2023 Aug 23.

Extracorporeal photopheresis increases neutrophilic myeloid-derived suppressor cells in patients with GvHD.

Autor: Rieber, N¹, Wecker, I¹, Neri, D¹, Fuchs, K¹, Schäfer, I¹, Brand, A¹, Pfeiffer, M¹, Lang, P¹, Bethge, W², Amon, O¹, Handgretinger, R¹, Hartl, D¹

Publikováno v: Bone Marrow Transplantation. Apr2014, Vol. 49 Issue 4, p545-552. 8p.

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