Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1 PMID: 27913302

Target-related Cytokines

2026-09-23

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.