Temporal windowing of recurrent sinusitis improves EHR-based immunodeficiency classification.
Recurrent sinopulmonary infections are a hallmark of common variable immunodeficiency (CVID), yet electronic health records (EHR) struggle to distinguish multiple discrete infections from a single infection comprising multiple clinic visits. Using diagnosis codes and antibiotic prescriptions, we dev…
Acute portal vein thrombosis postimage-guided liver biopsy in common variable immunodeficiency.
Portal vein thrombosis (PVT) is a rare complication following percutaneous liver biopsy, with an incidence below 0.4% in large multicenter series. We report a 51-year-old male with common variable immunodeficiency (CVID), chronic liver enzyme elevation, and preoperative imaging consistent with cirrh…
Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.
Diagnosing common variable immunodeficiency (CVID) in childhood remains contentious, as monogenic inborn errors of immunity (IEIs) are increasingly recognized in CVID-like phenotypes. We analyzed 7,525 ESID Registry patients with a clinical diagnosis of CVID to investigate age-dependent genetic arch…
How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome.
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a form of common variable immunodeficiency (CVID) caused by gain-of-function variants in PIK3CD (APDS1) or loss-of-function variants in PIK3R1 (APDS2), resulting in hyperactivation of the PI3Kδ pathway. Clinically, it is characterize…
Are Selenium Status and Inflammation Linked to Cardiometabolic Risk Factors in Inborn Errors of Immunity?
Patients with Inborn Errors of Immunity (IEI) are at increased cardiometabolic risk due to inflammation, immune dysfunction, and oxidative stress. Given selenium's essential role in antioxidant defense, this study evaluated plasma selenium concentration in individuals with IEI and its associations w…
25-Hydroxyvitamin D Sufficiency Is Associated With Reduced Atelectasis in Common Variable Immunodeficiency: A Cross-Sectional Study.
BACKGROUND Common variable immunodeficiency (CVID) is an inborn error of immunity characterized by impaired antibody production, poor vaccine responses, and reduced serum immunoglobulin levels, resulting in respiratory manifestations that can progress to pulmonary complications. Although vitamin D h…
Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.
Identifying genetic cause(s) is a key step for management and treatment of patients with inborn errors of immunity (IEI). Here, in an observational cross-sectional genomic study, we analyzed whole-genome sequencing (WGS) data of 72 IEI patients from Saint Petersburg and Northwestern Russia: 42 patie…
BAFF and APRIL Receptors in B Cell Immunity and Autoimmunity.
BAFF and APRIL are TNF superfamily proteins that bind to BAFFR, TACI and BCMA, members of the TNF receptor superfamily. These proteins have both unique and overlapping roles in B cell development and survival and are major therapeutic targets for antibody- and B-cell-driven pathologies. BAFF and BAF…