دورية أكاديمية
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
| العنوان: | Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia |
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| المؤلفون: | García-García, Ana, Pérez de Diego, Rebeca, Flores, Carlos, Rinchai, Darawan, Solé-Violán, Jordi, Deyà-Martínez, Àngela, García-Solis, Blanca, Lorenzo-Salazar, José M, Hernández-Brito, Elisa, Lanz, Anna-Lisa, Moens, Leen, Bucciol, Giorgia, Almuqamam, Mohamed, Domachowske, Joseph B, Colino, Elena, Santos-Perez, Juan Luis, Marco, Francisco M, Pignata, Claudio, Bousfiha, Aziz, Turvey, Stuart E, Bauer, Stefanie, Haerynck, Filomeen, Ocejo-Vinyals, Javier Gonzalo, Lendinez, Francisco, Prader, Seraina, Naumann-Bartsch, Nora, Pachlopnik Schmid, Jana, Biggs, Catherine M, Hildebrand, Kyla, Dreesman, Alexandra, Cárdenes, Miguel Ángel, Ailal, Fatima, Benhsaien, Ibtihal, Giardino, Giuliana, Molina-Fuentes, Agueda, Fortuny, Claudia, Madhavarapu, Swetha, Conway, Daniel H, Prando, Carolina, Schidlowski, Laire, Martínez de Saavedra Álvarez, María Teresa, Alfaro, Rafael, Rodríguez de Castro, Felipe, Meyts, Isabelle, Hauck, Fabian, Puel, Anne, Bastard, Paul, Boisson, Bertrand, Jouanguy, Emmanuelle, Abel, Laurent, Cobat, Aurélie, Zhang, Qian, Casanova, Jean-Laurent, Alsina, Laia, Rodríguez-Gallego, Carlos, Giuseppe, Novelli |
| المساهمون: | Ana, G, Rebeca, Pdd, Carlos, F, Darawan, R, Jordi, S, Àngela, D, Blanca, G, José M, L, Elisa, H, Anna-Lisa, L, Leen, M, Giorgia, B, Mohamed, A, Joseph B, D, Elena, C, Juan Luis, S, Francisco M, M, Claudio, P, Aziz, B, Stuart E, T, Stefanie, B, Filomeen, H, Javier Gonzalo, O, Francisco, L, Seraina, P, Nora, N, Jana, P, Catherine M, B, Kyla, H, Alexandra, D, Miguel Ángel, C, Fatima, A, Ibtihal, B, Giuliana, G, Agueda, M, Claudia, F, Swetha, M, Daniel H, C, Carolina, P, Laire, S, María Teresa, Mdsa, Rafael, A, Felipe, Rdc, Isabelle, M, Fabian, H, Anne, P, Paul, B, Bertrand, B, Emmanuelle, J, Laurent, A, Aurélie, C, Qian, Z, Jean-Laurent, C, Laia, A, Carlos, R, Novelli, G |
| بيانات النشر: | ROCKEFELLER UNIV PRESS |
| سنة النشر: | 2023 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| مصطلحات موضوعية: | Settore MED/03 - GENETICA MEDICA |
| الوصف: | X-linked recessive deficiency of TLR7, a MyD88- and IRAK-4-dependent endosomal ssRNA sensor, impairs SARS-CoV-2 recognition and type I IFN production in plasmacytoid dendritic cells (pDCs), thereby underlying hypoxemic COVID-19 pneumonia with high penetrance. We report 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency infected with SARS-CoV-2 (mean age: 10.9 yr; 2 mo to 24 yr), originating from 17 kindreds from eight countries on three continents. 16 patients were hospitalized: six with moderate, four with severe, and six with critical pneumonia, one of whom died. The risk of hypoxemic pneumonia increased with age. The risk of invasive mechanical ventilation was also much greater than in age-matched controls from the general population (OR: 74.7, 95% CI: 26.8-207.8, P < 0.001). The patients' susceptibility to SARS-CoV-2 can be attributed to impaired TLR7-dependent type I IFN production by pDCs, which do not sense SARS-CoV-2 correctly. Patients with inherited MyD88 or IRAK-4 deficiency were long thought to be selectively vulnerable to pyogenic bacteria, but also have a high risk of hypoxemic COVID-19 pneumonia.MyD88- and IRAK-4-deficient patients have a higher risk of hypoxemic COVID-19 pneumonia than individuals of similar age in the general population, due to impaired TLR7-dependent type I IFN production. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/36880831; info:eu-repo/semantics/altIdentifier/wos/WOS:000951708800001; volume:220; issue:5; journal:JOURNAL OF EXPERIMENTAL MEDICINE; https://hdl.handle.net/2108/321980Test |
| DOI: | 10.1084/jem.20220170 |
| الإتاحة: | https://doi.org/10.1084/jem.20220170Test https://hdl.handle.net/2108/321980Test |
| رقم الانضمام: | edsbas.7ADFB698 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1084/jem.20220170 |
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