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Article
Open AccessRecombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency
Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which unde...
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Article
Open AccessHarnessing large language models (LLMs) for candidate gene prioritization and selection
Feature selection is a critical step for translating advances afforded by systems-scale molecular profiling into actionable clinical insights. While data-driven methods are commonly utilized for selecting cand...
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Article
Open AccessInherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of multisystem inflammatory syndrome in ch...
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Article
Open AccessA Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes
Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impair...
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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
Open AccessVirome-wide serological profiling reveals association of herpesviruses with obesity
The relationship between viral infection and obesity has been known for several decades but epidemiological data is limited to only a few viral pathogens. The association between obesity and a wide range of vi...
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Article
Open AccessAuthor Correction: Exploring the Sequence-based Prediction of Folding Initiation Sites in Proteins
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessProLego: tool for extracting and visualizing topological modules in protein structures
In protein design, correct use of topology is among the initial and most critical feature. Meticulous selection of backbone topology aids in drastically reducing the structure search space. With ProLego, we pr...
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Article
Open AccessExploring the Sequence-based Prediction of Folding Initiation Sites in Proteins
Protein folding is a complex process that can lead to disease when it fails. Especially poorly understood are the very early stages of protein folding, which are likely defined by intrinsic local interactions ...
