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Article
Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
Dysregulation of the immune system in individuals with Down syndrome is thought to play a major role in the pathophysiology of many clinical presentations. This natural history of disease study took a comprehe...
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Article
Inborn errors of immunity: an expanding universe of disease and genetic architecture
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discus...
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Article
IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency
By inhibition of JAK-STAT signaling, SOCS1 acts as a master regulator of the cytokine response across numerous tissue types and cytokine pathways. Haploinsufficiency of SOCS1 has recently emerged as a monogeni...
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Article
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome
While adults with Down syndrome (DS) are at increased risk of severe COVID-19 pneumonia, little is known about COVID-19 in children with DS. In children without DS, SARS-CoV-2 can rarely cause severe COVID-19 ...
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Article
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
The pathophysiology of adverse events following programmed cell death protein 1 (PD-1) blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We studied a patient with inherited ...
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Article
Bourgeoning Scientific Research in Down Syndrome
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Article
Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders w...
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Article
A natural killer–dendritic cell axis defines checkpoint therapy–responsive tumor microenvironments
Intratumoral stimulatory dendritic cells (SDCs) play an important role in stimulating cytotoxic T cells and driving immune responses against cancer. Understanding the mechanisms that regulate their abundance i...
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Article
Open AccessISG15: leading a double life as a secreted molecule
ISG15 is a well-known intracellular ubiquitin-like molecule involved in ISGylation. However, a recent study has revived the notion first put forward two decades ago that ISG15 is also a secreted molecule. Huma...
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Article
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
The linear ubiquitination complex (LUBAC) is poorly understood in humans. Casanova and colleagues identify natural mutations in a component of human LUBAC and use this to dissect its function in vivo and in vitro
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Article
Open AccessClinical relevance of Neutral Endopeptidase (NEP/CD10) in melanoma
Overexpression of Neutral Endopeptidase (NEP) has been reported in metastatic carcinomas, implicating NEP in tumor progression and suggesting a role for NEP inhibitors in its treatment. We investigated the rol...