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https://hdl.handle.net/10495/41000| Título : | Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia |
| Autor : | Moncada Vélez, Marcela Zhang, Qian Matuozzo, Daniela Le Pen, Jérémie Lee, Danyel Moens, Leen Asano, Takaki Bohlen, Jonathan Liu, Zhiyong Kendir Demirkol, Yasemin Jing, Huie Bizien, Lucy Marchal, Astrid Abolhassani, Hassan Delafontaine, Selket Bucciol, Giorgia Ical Bayhan, Gulsum Keles, Sevgi Kiykim, Ayca Hancerli, Selda Haerynck, Filomeen Florkin, Benoit Hatipoglu, Nevin Ozcelik, Tayfun Morelle, Guillaume Zatz, Mayana F P Ng, Lisa Chien Lye, David Young, Barnaby Edward Leo, Yee-Sin Dalgard, Clifton L. P Lifton, Richard Renia, Laurent Meyts, Isabelle Jouanguy, Emmanuelle Hammarström, Lennart Pan Hammarström, Qiang Boisson, Bertrand Bastard, Paul C Su, Helen Boisson Dupuis, Stéphanie Abel, Laurent M Rice, Charles Zhang, Shen-Ying Cobat, Aurélie Casanova, Jean Laurent |
| metadata.dc.subject.*: | COVID-19 Inheritance Patterns Patrón de Herencia Interferon Type I Interferón Tipo I Pneumonia Neumonía SARS-CoV-2 https://id.nlm.nih.gov/mesh/D000086402 https://id.nlm.nih.gov/mesh/D000086382 https://id.nlm.nih.gov/mesh/D040582 https://id.nlm.nih.gov/mesh/D007370 https://id.nlm.nih.gov/mesh/D011014 |
| Fecha de publicación : | 2022 |
| Editorial : | Rockefeller University Press |
| Citación : | Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. |
| Resumen : | ABSTRACT: Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 × 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie ∼10% of hospitalizations for COVID-19 pneumonia in children. |
| metadata.dc.identifier.eissn: | 1540-9538 |
| ISSN : | 0022-1007 |
| metadata.dc.identifier.doi: | 10.1084/jem.20220131 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Médicas |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
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| MoncadaMarcela_2022_Recessive_Inborn_Errors.pdf | Artículo de investigación | 2.86 MB | Adobe PDF | Visualizar/Abrir |
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