To the Editor: Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia up-regulated 1

Publication date: Available online 29 November 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): 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

Teaser

We describe recessive mutations in hypoxia up-regulated 1 (HYOU1) in a patient that presented with generalized susceptibility to bacterial and herpetic infections as well as hypoglycemic episodes.


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