Interferons in Down syndrome: When more is less

Article Cell Biology

Deep immune phenotyping reveals similarities between aging, Down syndrome, and autoimmunity

Katharina Lambert et al.

Summary: By analyzing the immune phenotypes of individuals with Down syndrome, we discovered immune dysregulation features shared with other autoimmune diseases and developed immune clocks to measure immune aging in Down syndrome.

SCIENCE TRANSLATIONAL MEDICINE (2022)

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Article Immunology

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Paul Bastard et al.

Summary: Autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity that leads to susceptibility to viral diseases. This study reports the presence of this deficiency in seven children of western Polynesian ancestry, highlighting its higher prevalence in this population.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

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Article Immunology

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

Christopher J. A. Duncan et al.

Summary: This study investigated five children from Greenland, Canada, and Alaska who carried a homozygous IFNAR2 gene variant, resulting in increased vulnerability to viral infections. This finding highlights the essential role of Type I interferons in viral immunity and suggests the need for further population screening studies.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

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Article Immunology

Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome

Louise Malle et al.

Summary: Individuals with Down syndrome have oscillations of hyper- and hypo-response to interferon, leading to both a lower incidence of viral disease and increased infection-related morbidity and mortality.

IMMUNITY (2022)

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Review Immunology

Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome

Tomer Illouz et al.

Summary: Individuals over 60 years old and those with chronic medical conditions are at significantly higher risk of severe outcomes following respiratory tract infections. Down Syndrome patients experience alterations and dysfunctions in the immune system, increasing their susceptibility to respiratory infections.

FRONTIERS IN IMMUNOLOGY (2021)

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Article Immunology

Autoantibodies neutralizing type I IFNs are present in ∼4% of uninfected individuals over 70 years old and account for ∼20% of COVID-19 deaths

Paul Bastard et al.

Summary: Autoantibodies neutralizing interferons are present in a significant percentage of critical COVID-19 patients, especially in older individuals, and their prevalence increases with age.

SCIENCE IMMUNOLOGY (2021)

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Article Health Care Sciences & Services

Cause of death in adults with Down syndrome in the United StatesCause of death in adults with Down syndrome in the United States

Scott D. Landes et al.

DISABILITY AND HEALTH JOURNAL (2020)

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Article Multidisciplinary Sciences

USP18-Based Negative Feedback Control Is Induced by Type I and Type III Interferons and Specifically Inactivates Interferon α Response

Veronique Francois-Newton et al.

PLOS ONE (2011)

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Interferons in Down syndrome: When more is less

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