1. Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia.
- Author
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Guèye, Mame Sokhna, Ndiaye-Diop, Mame Téné, Le Voyer, Tom, Soudée, Camille, Ba, Idrissa Demba, Kane, Awa, Dème-Ly, Indou, Badiane-Seye, Joséphine Khady, L'Honneur, Anne-Sophie, Diallo, Abdoul Aziz, Ndiaye, Ousmane, Gadji, Macoura, Zhang, Qian, Mboup, Souleymane, Casanova, Jean-Laurent, Bustamante, Jacinta, and Dièye, Tandakha Ndiaye
- Subjects
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STAT proteins , *SEVERE combined immunodeficiency , *COVID-19 , *PNEUMONIA , *EMERGING infectious diseases , *COVID-19 pandemic - Abstract
Here, we report a new patient with AR partial STAT1 deficiency, with a history of BCG-osis and COVID-19 pneumonia. To our knowledge, this patient is the first with AR STAT1 deficiency associated with severe COVID-19 pneumonia. AR STAT1 deficiency was predicted to confer susceptibility to COVID-19 pneumonia as reported patients with this IEI developed pneumonia caused by other viruses [[2]] due to unresponsiveness to both type I and III IFNs. AR partial STAT1 deficiency is caused by decreased STAT1 protein expression, resulting in less severe symptoms than in patients with AR complete STAT1 deficiency [[2]]. [Extracted from the article]
- Published
- 2023
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