title: Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.
authors.affiliation: 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.
authors.forename: Emma M
authors.initials: EM
authors.lastname: Haapaniemi
authors.affiliation: 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.
authors.forename: Christopher L
authors.initials: CL
authors.lastname: Fogarty
authors.affiliation: Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
authors.forename: Salla
authors.initials: S
authors.lastname: Keskitalo
authors.affiliation: Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden; Science for Life Laboratory, Solna, Sweden.
authors.forename: Shintaro
authors.initials: S
authors.lastname: Katayama
authors.affiliation: Institute of Biotechnology, Electron Microscopy Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Helena
authors.initials: H
authors.lastname: Vihinen
authors.affiliation: Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland; Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland.
authors.forename: Mette
authors.initials: M
authors.lastname: Ilander
authors.affiliation: Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland; Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland.
authors.forename: Satu
authors.initials: S
authors.lastname: Mustjoki
authors.affiliation: Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden; Competence Centre on Health Technologies, Tartu, Estonia.
authors.forename: Kaarel
authors.initials: K
authors.lastname: Krjutškov
authors.affiliation: 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.
authors.forename: Markku
authors.initials: M
authors.lastname: Lehto
authors.affiliation: Oulu University Hospital, Oulu, Finland.
authors.forename: Timo
authors.initials: T
authors.lastname: Hautala
authors.affiliation: Faculty of Medicine, Department of Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland.
authors.forename: Ove
authors.initials: O
authors.lastname: Eriksson
authors.affiliation: Institute of Biotechnology, Electron Microscopy Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Eija
authors.initials: E
authors.lastname: Jokitalo
authors.affiliation: Metabolomics Unit, Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland.
authors.forename: Vidya
authors.initials: V
authors.lastname: Velagapudi
authors.affiliation: Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
authors.forename: Markku
authors.initials: M
authors.lastname: Varjosalo
authors.affiliation: Rare Disease Center, Children's Hospital and Adult Immunodeficiency Unit, Inflammation Center, Helsinki University and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Mikko
authors.initials: M
authors.lastname: Seppänen
authors.affiliation: 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.
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
mesh_terms: D000328:Adult; D005260:Female; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007003:Hypoglycemia / Q000235:genetics* / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D009154:Mutation
chemical_list: D018840:HSP70 Heat-Shock Proteins; C050087:oxygen-regulated proteins