Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Bucciol, Giorgia; Abel, Laurent; Al-Muhsen, Salah; Aiuti, Alessandro; Al‐Mulla, Fahd; Andreakos, Evangelos; Novelli, Antonio; Arias, Andrés A.; Trouillet‐Assant, Sophie; Belot, Alexandre; Biggs, Catherine M.; Bousfiha, Ahmed Aziz; Bolze, Alex; Borghesi, A.; Brodin, Petter; Christodoulou, John; Cobat, Aurélie; Condino‐Neto, Antônio; Constantinescu, Stefan N.; Dalgard, Clifton L.; Espinosa-Padilla, Sara; Fellay, Jacques; Flores, Carlos; Franco, José Luis; Froidure, Antoine; Gorochov, Guy; Haerynck, Filomeen; Halwani, Rabih; Hsieh, Elena W.Y.; Itan, Yuval; Kisand, Kai; Lau, Yu‐Lung; Mansouri, Davood; Meyts, Isabelle; Mogensen, Trine H.; Ng, Lisa F. P.; Notarangelo, Luigi D.; Novelli, Giuseppe; Okada, Satoshi; Özçelık, Tayfun; Diego, Rebeca Pérez de; Prando, Carolina; Pujol, Aurora; Rénia, Laurent; Resnick, Igor B.; Roussel, Lucie; Rodríguez‐Gallego, Carlos; Sancho‐Shimizu, Vanessa; Shahrooei, Mohammed; Soler‐Palacín, Pere; Spaan, András N.; Tancevski, Ivan; Tangye, Stuart G.; Tayoun, Ahmad Abou; Temel, Şehime Gülsün; Tiberghien, Pierre; Pérez-Tur, Jordi; Turvey, Stuart E.; Uddin, Furkan; Uddin, M.J.; Vidigal, Mateus; Vinh, Donald C.; Zatz, Mayana; Okamoto, Ken‐ichi; Perlin, David S.; Pesole, Graziano; Thorball, Christian W; Beek, Diederik van de; Colobran, Roger; Wauters, Joost; Zhang, Shen-Ying; Zhang, Qian; Su, Helen C.; Casanova, Jean‐Laurent

doi:10.1016/j.jaci.2023.02.003

Cited by 11 publications

(6 citation statements)

References 101 publications

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“…Recessive or dominant inborn errors of IFN immunity can underlie the COVID disease in unvaccinated adults. Inborn errors of IFN immunity also are seen in children ( 119 , 120 ). Pre-activated antiviral innate immunity has been described in children as a factor in upper airways that controls early SARS-CoV-2 infection, with a higher basal expression of the viral RNA sensors MDA5 and RIG-I in cells from children than from adults ( 119 ).…”

Section: Ifn System Genetic Determinants Of Human Covid-19 Diseasementioning

confidence: 99%

Interferon at the crossroads of SARS-CoV-2 infection and COVID-19 disease

Samuel

2023

Journal of Biological Chemistry

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Section: Ifn System Genetic Determinants Of Human Covid-19 Diseasementioning

confidence: 99%

Interferon at the crossroads of SARS-CoV-2 infection and COVID-19 disease

Samuel

2023

Journal of Biological Chemistry

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“…Recently, a multisystem inflammatory syndrome in children, also known as MIS-C, has been identified as a rare but fatal complication of otherwise mild severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children and young adults [ 41 ]. It is characterized by a hyperinflammatory state that closely mimics KD.…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by a hyperinflammatory state that closely mimics KD. Unlike KD, which usually affects children below five years of age, MIS-C affects slightly older children aged between 7 to 12 years of age and has a more severe disease course with features of hemophagocytic lymphohistiocytosis (HLH) leading to multiorgan dysfunction syndrome (MODS), cytopenia, shock, and myocarditis [ 41 , 42 , 43 ]. Cytokine storm underlies the hyperinflammatory state.…”

Section: Discussionmentioning

confidence: 99%

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Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications

et al. 2023

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The exact etiopathogenesis of Kawasaki disease (KD), the most common childhood vasculitis, remains unknown; however, an aberrant immune response, possibly triggered by an infectious or environmental agent in genetically predisposed children, is believed to be the underlying pathogenetic mechanism. Patients with inborn errors of immunity (IEI) are predisposed to infections that trigger immune dysregulation due to an imbalance in various arms of the immune system. KD may develop as a complication in both primary and secondary immunodeficiencies. KD may occur either at disease presentation or have a later onset in IEIs. These include X-linked agammaglobulinemia (XLA), selective IgA deficiency, transient hypogammaglobulinemia of infancy; Wiskott–Aldrich syndrome (WAS), hyper IgE syndrome (HIES); chronic granulomatous disease (CGD), innate and intrinsic immunity defects, and autoinflammatory diseases, including PFAPA. Hitherto, the association between KD and IEI is confined to specific case reports and case series and, thus, requires extensive research for a comprehensive understanding of the underlying pathophysiological mechanisms. IEIs may serve as excellent disease models that would open new insights into the disease pathogenesis of children affected with KD. The current review highlights this critical association between KD and IEI supported by published literature.

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“…The majority of cases reported correspond to males, with a proportion of 1.5 to 1 (male/female), as previously reported in the general population [ 18 , 19 ]. A higher prevalence of MIS-C in males has been reported in the Mexican population; although the reason is not clear, it could be due to a higher risk of developing COVID-19, and it has been hypothesized that specific immune defects could predispose males to MIS-C [ 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

Multisystemic Inflammatory Syndrome Temporally Associated with COVID-19 in a Regional Pediatric Hospital from México

Barroso-Santos,

Robledo-Martínez,

Espinosa-Padilla

et al. 2023

Pediatric Reports

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Multisystemic inflammatory syndrome (MIS-C) is an inflammatory condition temporally associated with COVID-19 in children; nevertheless, the clinical and immunologic spectrum of MIS-C is heterogeneous, and its long-term effects are unknown. During the period of August 2020 to December 2021, a total of 52 MIS-C cases were confirmed in pediatric patients from the Hospital del Niño DIF Hidalgo, diagnosed using criteria from the World Health Organization. All patients had serologic IgG confirmation of SARS-CoV2, the mean age of the patients was 7 years, and 94% of the patients did not have a previous underlying disease. In addition to the presentation of lymphopenia, neutropenia, and thrombocytopenia, elevations in D-dimer and ferritin levels were observed in all patients. There was clinical improvement with intravenous gamma globulin and corticosteroid treatment.

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Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Cited by 11 publications

References 101 publications

Interferon at the crossroads of SARS-CoV-2 infection and COVID-19 disease

Interferon at the crossroads of SARS-CoV-2 infection and COVID-19 disease

Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications

Multisystemic Inflammatory Syndrome Temporally Associated with COVID-19 in a Regional Pediatric Hospital from México

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