A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation

Affiliations

• ¹ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden. Electronic address: Bianca.Tesi@ki.se.
• ² Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania. Electronic address: jelena.rascon@vuvl.lt.
• ³ Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
• ⁴ Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
• ⁵ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
• ⁶ Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
• ⁷ Center for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.
• ⁸ Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
• ⁹ Lithuanian University of Health Sciences (LUHS), Center of Pediatric Oncology and Hematology at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
• ¹⁰ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
• ¹¹ LUHS, Center of Chronic Respiratory Diseases in Children at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
• ¹² Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
• ¹³ Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
• ¹⁴ Department of Physiology, Biochemistry, Microbiology and Laboratory Medicine, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Centre of Laboratory Medicine, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
• ¹⁵ Faculty of Medicine, Vilnius University, Vilnius, Lithuania; LUHS, Neurology Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
• ¹⁶ Center for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
• ¹⁷ Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania.
• ¹⁸ Child Neurology Department at Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
• ¹⁹ Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden; Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway.