Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1

Affiliations

• 1 Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. Electronic address: emma.haapaniemi@ki.se.
• 2 Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland; Abdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland.
• 3 Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
• 4 Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden; Science for Life Laboratory, Solna, Sweden.
• 5 Institute of Biotechnology, Electron Microscopy Unit, University of Helsinki, Helsinki, Finland.
• 6 Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland; Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland.
• 7 Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden; Competence Centre on Health Technologies, Tartu, Estonia.
• 8 Oulu University Hospital, Oulu, Finland.
• 9 Faculty of Medicine, Department of Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland.
• 10 Metabolomics Unit, Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland.
• 11 Rare Disease Center, Children's Hospital and Adult Immunodeficiency Unit, Inflammation Center, Helsinki University and Helsinki University Hospital, Helsinki, Finland.
• 12 Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland; Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden.