학술논문
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia.
Document Type
Article
Author
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; Dièye, Tandakha Ndiaye
Source
Subject
*STAT proteins
*SEVERE combined immunodeficiency
*COVID-19
*PNEUMONIA
*EMERGING infectious diseases
*COVID-19 pandemic
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Language
ISSN
0271-9142
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]