4.6 Article

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome

Related references

Note: Only part of the references are listed.
Article Immunology

A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis

Florian Gothe et al.

Summary: The case study presents a child with complete deficiency of the interferon alpha/beta receptor alpha chain (IFNAR1) who experienced fatal systemic hyperinflammation, possibly triggered by live-attenuated viral vaccination. This hyperinflammatory condition, meeting the criteria for hemophagocytic lymphohistiocytosis, is a new phenotype associated with inborn errors of type I interferon immunity.

CLINICAL INFECTIOUS DISEASES (2022)

Article Immunology

A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19

Shaghayegh Khanmohammadi et al.

Summary: This study reported a patient with severe COVID-19 who had a mutation in IFNAR1, indicating that patients with IFNAR1 deficiency are prone to severe forms of COVID-19. Furthermore, the study suggests that IFN-gamma therapy may be a potential drug to treat patients with defects in IFN-alpha/beta signaling pathways, but further investigations are needed.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

Article Immunology

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

Hassan Abolhassani et al.

Summary: This study identified a unique case of a patient with a preexisting inborn error of immunity (IEI) who developed critical COVID-19 pneumonia. Genetic analysis revealed homozygous deleterious mutations in the ATM gene and a hemizygous deleterious mutation in the TLR7 gene, underlying Ataxia-Telangiectasia (A-T) and critical COVID-19 in this patient. Among other A-T patients evaluated, SARS-CoV-2 infection resulted in mild symptoms or asymptomatic cases, highlighting the importance of genetic factors in COVID-19 severity.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

Review Genetics & Heredity

Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity

Christopher J. A. Duncan et al.

Summary: IFN-I is essential in antiviral immunity, with most pathogenic viruses evolving countermeasures against it. Recent discoveries of genetic defects in IFN-I signaling shed light on the importance of IFN-III in humans, enhancing our understanding of the role of the IFN system in the antiviral response.

TRENDS IN GENETICS (2021)

Article Immunology

Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency

Samaneh Delavari et al.

Summary: A study on patients with primary immunodeficiency disorders showed that while their incidence of infections was only 1.23 times higher than the general population, their mortality rate was 10 times higher, particularly in patients with combined immunodeficiency and immune dysregulation. Further management strategies such as hematopoietic stem cell transplantation and immunomodulatory agents should be considered to improve the survival rate in these patients.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

Article Medicine, Research & Experimental

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

Paul Bastard et al.

Summary: This study reports a patient with a genetic deficiency in IFNAR1 leading to HSV-1 encephalitis, with additional related cases in the family, highlighting the essential role of IFN-α/β in anti-HSV-1 immunity in the central nervous system.

JOURNAL OF CLINICAL INVESTIGATION (2021)

Article Medicine, Research & Experimental

Distinct antibody repertoires against endemic human coronaviruses in children and adults

Taushif Khan et al.

Summary: This study provides a comprehensive analysis of CoV-specific antibody repertoires in children and adults, revealing qualitative differences in antibody repertoires against endemic HCoVs between children and adults. Antibody specificities targeting the fusion peptide region and 52' cleavage site of the spike protein show broad cross-reactivity with peptides of epidemic human and nonhuman coronaviruses.

JCI INSIGHT (2021)

Article Medicine, General & Internal

SARS-CoV-2 Transmission From People Without COVID-19 Symptoms

Michael A. Johansson et al.

Summary: The study suggests that more than half of COVID-19 transmission may come from asymptomatic individuals, highlighting the importance of measures beyond identifying and isolating symptomatic cases in controlling the spread of the virus.

JAMA NETWORK OPEN (2021)

Review Pediatrics

Multisystem inflammatory syndrome in children related to COVID-19: a systematic review

Levi Hoste et al.

Summary: PIMS-TS/MIS(-C) is a severe, heterogeneous disease with epidemiological enrichment for males, adolescents, and racial and ethnic minorities. Despite its severe presentation, overall short-term outcome is good. The WHO MIS definition is preferred, as it is more precise, while encompassing most cases.

EUROPEAN JOURNAL OF PEDIATRICS (2021)

Article Multidisciplinary Sciences

Virome-wide serological profiling reveals association of herpesviruses with obesity

Mohammad Rubayet Hasan et al.

Summary: The study found a higher prevalence of herpesvirus infections in obese adults in Qatar, but this association was not observed in the pediatric population. There was a significant association between seropositivity to herpes simplex virus 1 (HSV-1) and obesity.

SCIENTIFIC REPORTS (2021)

Review Medicine, General & Internal

Severe covid-19 pneumonia: pathogenesis and clinical management

Amy H. Attaway et al.

Summary: Severe covid-19 pneumonia presents challenges for medical research and treatment, with specific risk factors and clinical features identified. Approaches involving high flow nasal cannula, ventilation strategies, and medication choices are important for managing severe cases. Comprehensive interdisciplinary methods are essential for the recovery of critically ill covid-19 patients.

BMJ-BRITISH MEDICAL JOURNAL (2021)

Article Immunology

Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency

Bishara J. Freij et al.

Summary: This study identified a novel genetic cause of homozygous STAT2 deficiency with unique clinical features, including HLH, severe influenza, and vaccine-strain varicella. Genetic investigation revealed a novel nonsense STAT2 variant that led to a lack of STAT2 protein expression and impaired IFN-I signaling. The occurrence of life-threatening influenza and vaccine-strain varicella in association with STAT2 deficiency highlights the critical role of IFN-I/III immunity in viral infections and vaccine responses.

FRONTIERS IN IMMUNOLOGY (2021)

Review Immunology

Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway

Isabelle Meyts et al.

Summary: The study reveals a greater redundancy of human type I interferons for protective immunity to viruses in natural conditions than initially anticipated, while mouse type I interferons are essential for protection against a broad range of viruses in experimental settings. Various type I interferon-independent mechanisms of human cell-intrinsic immunity to viruses have yet to be discovered.

EUROPEAN JOURNAL OF IMMUNOLOGY (2021)

Review Immunology

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Vanessa Sancho-Shimizu et al.

Summary: MIS-C, a newly emerging syndrome in children associated with COVID-19, shows heterogeneity resembling KD, possibly triggered by viruses and potentially linked to rare inborn errors of immunity altering the immune response. Discovery of monogenic IEIs underlying MIS-C may pave the way for a new genetic approach to classic KD.

JOURNAL OF EXPERIMENTAL MEDICINE (2021)

Article Otorhinolaryngology

Post coronavirus disease mucormycosis: a deadly addition to the pandemic spectrum

S. Sharma et al.

Summary: A study found an association between coronavirus disease and fungal infection of the paranasal sinuses, with ethmoids being the most commonly affected sinuses. Intra-orbital extension occurred in 43.47% of cases, while intracranial extension was seen in only 8.69% of cases. Twenty-one out of 23 patients had diabetes mellitus, with 12 cases being uncontrolled, and all patients had a history of steroid use during their coronavirus treatment.

JOURNAL OF LARYNGOLOGY AND OTOLOGY (2021)

Article Medicine, General & Internal

Treatment of Multisystem Inflammatory Syndrome in Children

Andrew J. McArdle et al.

Summary: This international observational cohort study found no significant difference in the recovery from MIS-C after primary treatment with IVIG alone, IVIG plus glucocorticoids, or glucocorticoids alone, although significant differences may emerge as more data accrue.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

Article Genetics & Heredity

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Axel Schmidt et al.

Summary: A 3.5-year-old girl with an autoinflammatory disorder of unknown etiology and severe COVID-19 symptoms died, with gene sequencing revealing variants associated with severe COVID-19 and common variable immunodeficiency, possibly predisposing to lethal COVID-19 in this case.

NPJ GENOMIC MEDICINE (2021)

Article Immunology

Polyclonal expansion of TCR Vβ 21.3+ CD4+ and CD8+ T cells is a hallmark of multisystem inflammatory syndrome in children

Marion Moreews et al.

Summary: MIS-C is characterized by increased serum inflammatory cytokines and a specific expansion of activated T cells expressing the V.21.3 T cell receptor beta chain variable region, not directed against SARS-CoV-2 antigenic peptides, which differentiates it from KD, TSS, and acute COVID-19. The T cell repertoire returns to baseline soon after MIS-C resolution.

SCIENCE IMMUNOLOGY (2021)

Article Medicine, Research & Experimental

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis

Camille de Cevins et al.

Summary: The study reveals that the most severe forms of multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 infection resulting in myocarditis are characterized by elevated levels of cytokines and chemokines, as well as a unique monocyte/dendritic cell gene signature correlated with sustained NF-κB activity and TNF-α signaling. This suggests a weak response to interferons, hyperinflammation, and increased response to oxidative stress related to HIF-1α and VEGF signaling.
Article Medicine, Research & Experimental

Persistence of SARS-CoV-2-specific B and T cell responses in convalescent COVID-19 patients 6-8 months after the infection

Natalia Sherina et al.

Summary: The study shows that 85% of samples from COVID-19 patients had anti-SARS-CoV-2 antibodies within 4 weeks of symptom onset, while specific IgG antibodies and plasma neutralizing activities remained relatively stable up to 6 months after diagnosis. 80% of samples collected at 6-8 months after symptom onset still had anti-SARS-CoV-2 IgG antibodies, and specific memory B and T cell responses continued to develop and persist.
Review Mycology

Coronavirus Disease (Covid-19) Associated Mucormycosis (CAM): Case Report and Systematic Review of Literature

Deepak Garg et al.

Summary: The study discussed a case of probable pulmonary mucormycosis in a COVID-19 patient, highlighting the severity of the disease and the importance of aggressive management for better outcomes. A systematic review revealed that diabetes mellitus was the most common risk factor, and the concurrent use of glucocorticoids may also increase the risk of mucormycosis.

MYCOPATHOLOGIA (2021)

Article Medicine, General & Internal

An autopsy study of the spectrum of severe COVID-19 in children: From SARS to different phenotypes of MIS-C

Amaro Nunes Duarte-Neto et al.

Summary: SARS-CoV-2 can infect multiple organs in pediatric patients, leading to different clinical manifestations. Severe COVID-19 in children can present as primarily pulmonary disease or as a multisystem inflammatory syndrome involving various organs. The presence of SARS-CoV-2 in different tissues suggests a direct effect on the pathogenesis of the disease.

ECLINICALMEDICINE (2021)

Review Hematology

Current genetic landscape in common variable immune deficiency

Hassan Abolhassani et al.

BLOOD (2020)

Article Medicine, Research & Experimental

Inherited human IFN-γ deficiency underlies mycobacterial disease

Gaspard Kerner et al.

JOURNAL OF CLINICAL INVESTIGATION (2020)

Article Public, Environmental & Occupational Health

Severe Outcomes Among Patients with Coronavirus Disease 2019 (COVID-19) - United States, February 12-March 16, 2020

MMWR-MORBIDITY AND MORTALITY WEEKLY REPORT (2020)

Article Allergy

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation

Daniel F. R. Boehmer et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2020)

Article Public, Environmental & Occupational Health

COVID-19-Associated Multisystem Inflammatory Syndrome in Children - United States, March-July 2020

Shana Godfred-Cato et al.

MMWR-MORBIDITY AND MORTALITY WEEKLY REPORT (2020)

Article Biochemistry & Molecular Biology

The Immunology of Multisystem Inflammatory Syndrome in Children with COVID-19

Camila Rosat Consiglio et al.

Article Medicine, Research & Experimental

Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS CoV-2

Caroline Diorio et al.

JOURNAL OF CLINICAL INVESTIGATION (2020)

Article Multidisciplinary Sciences

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard et al.

SCIENCE (2020)

Article Allergy

Impaired control of multiple viral infections in a family with complete IRF9 deficiency

Maria Bravo Garcia-Morato et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)

Article Allergy

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Markus G. Seidel et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2019)

Article Allergy

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis

Mohammed F. Alosaimi et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)

Article Immunology

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Nicholas Hernandez et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2018)

Article Medicine, Research & Experimental

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

Rodrigo Hoyos-Bachiloglu et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

Article Genetics & Heredity

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Letter Biochemical Research Methods

The mutation significance cutoff: gene-level thresholds for variant predictions

Yuval Itan et al.

NATURE METHODS (2016)

Article Multidisciplinary Sciences

Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1

Nils Landegren et al.

SCIENTIFIC REPORTS (2016)

Article Immunology

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Alexandra Y. Kreins et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2015)

Article Cell Biology

Human IFNAR2 deficiency: Lessons for antiviral immunity

Christopher J. A. Duncan et al.

SCIENCE TRANSLATIONAL MEDICINE (2015)

Article Multidisciplinary Sciences

STAT2 deficiency and susceptibility to viral illness in humans

Sophie Hambleton et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)