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The United States Immunodeficiency Network (USIDNET) is a registry that collects de-identified patient data from hospitals across the country to study rare immune conditions, including inborn errors of immunity (IEI). Th...

Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

BackgroundThe cytotoxic T lymphocyte-associated protein 4 (CTLA-4) is a well-known immune checkpoint inhibitor. Heterozygous germline mutations in CTLA4 in humans lead to immune deficiency, autoimmunity, auto-inflammatio...

Common variable immunodeficiency (CVID) is a group of heterogeneous disorders with common denominators of impaired antibody production and function and recurrent infections. Currently, prognostic biomarkers for CVID are ...

This study presents PrimDx, a diagnostic test that applies machine learning (ML) to whole blood transcriptomic data to improve early detection and diagnosis of primary immunodeficiency (PID). Delays in PID diagnosis are ...

RationaleCommon variable immunodeficiency (CVID) is a chronic, multisystem immune disorder associated with substantial symptom burden beyond infections, particularly among individuals with noninfectious inflammatory comp...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

BackgroundRegulator of telomere elongation helicase 1 (RTEL1) is a gene that encodes a DNA helicase crucial for DNA repair and telomere maintenance. It belongs to a family of genes associated with telomere biology disord...

IntroductionThe United States Immunodeficiency Network (USIDNET) collects de-identified patient data from hospitals across the country to study inborn errors of immunity (IEI). The registry contains records on >6,000 pat...