Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1

  • J Allergy Clin Immunol. 2017 Apr;139(4):1391-1393.e11. doi: 10.1016/j.jaci.2016.09.050.
Emma M Haapaniemi  1 ,  Christopher L Fogarty  2 ,  Salla Keskitalo  3 ,  Shintaro Katayama  4 ,  Helena Vihinen  5 ,  Mette Ilander  6 ,  Satu Mustjoki  6 ,  Kaarel Krjutškov  7 ,  Markku Lehto  2 ,  Timo Hautala  8 ,  Ove Eriksson  9 ,  Eija Jokitalo  5 ,  Vidya Velagapudi  10 ,  Markku Varjosalo  3 ,  Mikko Seppänen  11 ,  Juha Kere  12
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: [email protected].
  • 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.
PMID: 27913302 DOI: 10.1016/j.jaci.2016.09.050