IFN-γ receptor 2 deficiency initial mimicry of multisystem inflammatory syndrome in children (MIS-C)

Jin, Haoli; Moss, Rachel; Reed, James Christopher; Hertzberg, Emily; Cruz, Mariawy Riollano; Akkoyun, Ersa; Tosi, Michael F.; Bogunovic, Dusan; Cunningham‐Rundles, Charlotte

doi:10.1016/j.jaip.2020.08.053

Cited by 6 publications

(9 citation statements)

References 8 publications

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“…Over the past 2 years, outcomes of SARS-CoV-2 infection have been reported for ∼1330 individuals with IEI. These studies range from reports of single cases or small numbers of patients 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 to cohort studies from Iran, 89 , 90 , 91 Turkey, 92 , 93 , 94 Brazil, 95 , 96 Israel, 97 Italy, 98 , 99 , 100 , 101 Spain, 102 the United Kingdom, 15 , 103 , 104 Mexico, 105 Denmark, 106 , 107 Poland, 108 …”

Section: Sars-cov-2 Infection Covid-19 and Ieimentioning

confidence: 99%

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Abel¹,

Al-Muhsen²,

Aiuti³

et al. 2023

Journal of Allergy and Clinical Immunology

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Section: Sars-cov-2 Infection Covid-19 and Ieimentioning

confidence: 99%

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Abel¹,

Al-Muhsen²,

Aiuti³

et al. 2023

Journal of Allergy and Clinical Immunology

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“…Thirty-nine patients with innate immune defects and COVID-19 have been reported (6%) [ 1 ▪▪ , 5 ▪ , 10 , 16 , 23 , 35 , 38 , 47 , 71 ]. The rate of ICU admission of this group is the highest at 62%, potentially because a large number of patients was accounted for by studies focusing on innate immune defects in critical COVID-19 cases [ 1 ▪▪ , 23 ].…”

Section: Overview Of Reports Of Coronavirus Disease 2019 In Patients With Inborn Errors Of Immunitymentioning

confidence: 99%

Coronavirus disease 2019 in patients with inborn errors of immunity: lessons learned

Bucciol

Tangye

Meyts

2021

Current Opinion in Pediatrics

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Purpose of review The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has caused extreme concern for patients with inborn errors of immunity (IEIs). In the first 6 months of the pandemic, the case fatality rate among patients with IEIs resembled that of the general population (9%). This review aims at summarizing what we have learned about the course and outcome of coronavirus disease 2019 (COVID-19) in patients with different IEIs and what this can potentially teach us about the immune mechanisms that could confer protection or predisposition to severe disease. Recent findings A total of 649 patients with IEI and COVID-19 have been reported in the last year and a half, spanning all groups of the International Union of Immunological Societies classification of IEIs. For most patients, the underlying IEI does not represent an independent risk factor for severe COVID-19. In fact, some IEI may even be protective against the severe disease due to impaired inflammation resulting in less immune-mediated collateral tissue damage. Summary We review the characteristics of SARS-CoV-2 infection in a large number of patients with IEI. Overall, we found that combined immunodeficiencies, immune dysregulation disorders, and innate immune defects impairing type I interferon responses are associated with severe disease course.

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“…Examples of this include not only susceptibility to infection by HSV-1 [4], respiratory infections [5,6,8], EBV [7], or attenuated viral vaccines [5,6] in some IEIs, but also the occurrence of enteroviral meningioencephalitis (∼5%) and vaccine-associated poliomyelitis (∼1.5%) in X-linked agammaglobulinemia (XLA) patients [26]. Over the past 12 months, reports of individual cases [27–53] and of individuals with the same type of IEI [54 ▪ ,55–66], as well as local [58,67,68], national [69–75] and international [76 ▪▪ ] cohort studies have assessed the outcomes of SARS-CoV2 infection on such individuals. These studies have provided key findings regarding host defense against SARS-CoV2 infection, and mechanisms of disease pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

Mechanisms underlying host defense and disease pathology in response to severe acute respiratory syndrome (SARS)-CoV2 infection: insights from inborn errors of immunity

Tangye

Bucciol

Meyts

2021

Current Opinion in Allergy &Amp; Clinical Immunology

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Purpose of reviewThe severe acute respiratory syndrome (SARS)-coronavirus 2 (CoV2)/COVID-19 pandemic has reminded us of the fundamental and nonredundant role played by the innate and adaptive immune systems in host defense against emerging pathogens. The study of rare ‘experiments of nature’ in the setting of inborn errors of immunity (IEI) caused by monogenic germline variants has revealed key insights into the molecular and cellular requirements for immune-mediated protection against infectious diseases. This review will provide an overview of the discoveries obtained from investigating severe COVID-19 in patients with defined IEI or otherwise healthy individuals.Recent findingsGenetic, serological and cohort studies have provided key findings regarding host defense against SARS-CoV2 infection, and mechanisms of disease pathogenesis. Remarkably, the risk factors, severity of disease, and case fatality rate following SARS-CoV2 infection in patients with IEI were not too dissimilar to that observed for the general population. However, the type I interferon (IFN) signaling pathway – activated in innate immune cells in response to viral sensing – is critical for anti-SARS-CoV2 immunity. Indeed, genetic variants or autoAbs affecting type I IFN function account for up to 20% of all cases of life-threatening COVID-19.SummaryThe analysis of rare cases of severe COVID-19, coupled with assessing the impact of SARS-CoV2 infection in individuals with previously diagnosed IEI, has revealed fundamental aspects of human immunology, disease pathogenesis and immunopathology in the context of exposure to and infection with a novel pathogen. These findings can be leveraged to improve therapies for treating for emerging and established infectious diseases.

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IFN-γ receptor 2 deficiency initial mimicry of multisystem inflammatory syndrome in children (MIS-C)

Cited by 6 publications

References 8 publications

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Coronavirus disease 2019 in patients with inborn errors of immunity: lessons learned

Mechanisms underlying host defense and disease pathology in response to severe acute respiratory syndrome (SARS)-CoV2 infection: insights from inborn errors of immunity

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