Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1

Emma M Haapaniemi; Christopher L Fogarty; Salla Keskitalo; Shintaro Katayama; Helena Vihinen; Mette Ilander; Satu Mustjoki; Kaarel Krjutškov; Markku Lehto; Timo Hautala; Ove Eriksson; Eija Jokitalo; Vidya Velagapudi; Markku Varjosalo; Mikko Seppänen; Juha Kere

doi:10.1016/j.jaci.2016.09.050

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. Epub 2016 Nov 29.

Authors

Emma M Haapaniemi¹, Christopher L Fogarty², Salla Keskitalo³, Shintaro Katayama⁴, Helena Vihinen⁵, Mette Ilander⁶, Satu Mustjoki⁶, Kaarel Krjutškov⁷, Markku Lehto², Timo Hautala⁸, Ove Eriksson⁹, Eija Jokitalo⁵, Vidya Velagapudi¹⁰, Markku Varjosalo³, Mikko Seppänen¹¹, Juha Kere¹²

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.

PMID: 27913302
DOI: 10.1016/j.jaci.2016.09.050

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
HSP70 Heat-Shock Proteins / genetics*
HSP70 Heat-Shock Proteins / immunology
Humans
Hypoglycemia / genetics*
Hypoglycemia / immunology
Immunologic Deficiency Syndromes / genetics*
Immunologic Deficiency Syndromes / immunology
Mutation

Substances

HSP70 Heat-Shock Proteins
oxygen-regulated proteins