"Common variable immunodeficiency"

A Predictive Model for Identification of Pediatric Individuals With Common Variable Immunodeficiency through Electronic Medical Records. Common variable immunodeficiency (CVID) is characterized by recurrent sinopulmonary infections. However, in the pediatric population, recurrent sinopulmonary infections early in life are common, which can render key clinical features of CVID less distinctive

IRF2BP2 Deficiency: An important form of common variable immunodeficiency with inflammation. Interferon regulatory factor-2 binding protein-2 (IRF2BP2) is a transcription factor that plays an important role in regulating immune pathways, angiogenesis, apoptosis, and cell differentiation. Defects in this gene have been implicated in immunodeficiency. To deepen the understanding of the clinical

Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency. CLEC16A intron 19 has been identified as a candidate locus for common variable immunodeficiency (CVID). The objective of this study is to elucidate the molecular mechanism by which variants at the CLEC16A intronic locus may contribute to the pathogenesis of CVID. We performed fine-mapping

Development of hepatic fibrosis in common variable immunodeficiency-related porto-sinusoidal vascular disorder. Liver involvement is an increasingly recognised complication of common variable immunodeficiency (CVID). Nodular regenerative hyperplasia (NRH), a subgroup of porto-sinusoidal vascular disorder, and manifestations of portal hypertension (PH) unrelated to cirrhosis are the most common

The common variable immunodeficiency IgM repertoire narrowly recognizes erythrocyte and platelet glycans. Autoantibody-mediated cytopenias (AICs) regularly occur in profoundly IgG-deficient common variable immunodeficiency (CVID) patients. The isotypes, antigenic targets, and origin(s) of their disease-causing autoantibodies are unclear. To determine reactivity, clonality and provenance of AIC

Relationships between bronchiectasis and time to achieving target trough immunoglobulin G levels in patients with common variable immunodeficiency. The main treatment of common variable immunodeficiency (CVID) is to maintain immunoglobulin G (IgG) levels within the target range. However, trough IgG levels differ among patients with similar body mass index (BMI) and those receiving the same dose

Lung function trajectories in Common Variable Immunodeficiencies: an observational retrospective multicenter study. Respiratory disease is a frequent cause of morbidity and mortality in Common Variable Immunodeficiencies (CVIDs), however lung function trajectories are poorly understood. To determine lung physiology measurements in CVID, their temporal trajectory and association with clinical

Antibody and T-cell responses to coronavirus disease 2019 vaccination in common variable immunodeficiency and specific antibody deficiency. Clinical trials of the mRNA coronavirus disease 2019 (COVID-19) vaccines excluded individuals with primary antibody deficiencies. To evaluate whether antibody and T-cell responses to mRNA COVID-19 vaccination in patients with common variable immunodeficiency

Common Variable Immunodeficiency: More Pathways than Roads to Rome. Fifty years have elapsed since the term common variable immunodeficiency (CVID) was introduced to accommodate the many and varied antibody deficiencies being identified in patients with suspected inborn errors of immunity (IEIs). Since then, how the term is understood and applied for diagnosis and management has undergone many

Common variable immunodeficiency, cross currents, and prevailing winds. Common variable immunodeficiency (CVID) is a heterogenous disease category created to distinguish late-onset antibody deficiencies from early-onset diseases like agammaglobulinemia or more expansively dysfunctional combined immunodeficiencies. Opinions vary on which affected patients should receive a CVID diagnosis which

Endoscopic and histopathological hints on infections in patients of common variable immunodeficiency disorder with gastrointestinal symptoms. Common variable immunodeficiency disorder (CVID) patients may have gastrointestinal (GI) involvement and suffer from infections, which are poorly understood. This study aimed to evaluate the clinical, endoscopic, and histopathological features of CVID

Relationship between autoimmune diseases and serum basal immunoglobulin E levels in patients with common variable immunodeficiency. Autoimmune diseases can occur at any time in patients with common variable immunodeficiency (CVID). However, the relationship between low immunoglobulin E (IgE) levels and autoimmune diseases in patients with CVID remains poorly understood. We aimed to determine

Common variable immunodeficiency disorder (CVID)-related liver disease: assessment of the main histological aspects using novel semiquantitative scoring systems, image analysis and correlation with clinical parameters of liver stiffness and portal hypert We aimed to investigate the relationship between T-cell-mediated sinusoidal injury, nodular regenerative hyperplasia like changes (NRH-LC ) and fibrosis, clinical measures of fibrosis and portal hypertension, and progression rate in common variable immunodeficiency disorder (CVID)-related liver disease. This is a retrospective single-centre study. Liver biopsies from CVID patients with liver disease were reviewed to assess for NRH-LC, fibrosis and elastosis, including collagen and elastin proportionate areas. CD3 positive T-cells infiltration

Role of rare immune cells in common variable immunodeficiency. Common variable immunodeficiency disorder (CVID) is a heterogeneous disorder and the most common symptomatic antibody deficiency disease characterized with hypogammaglobulinemia and a broad range of clinical manifestations. Multiple genetic, epigenetic, and immunological defects are involved in the pathogenesis of CVID

Convergence of cytokine dysregulation and antibody deficiency in common variable immunodeficiency with inflammatory complications. Noninfectious complications are the greatest cause of morbidity and mortality in common variable immunodeficiency (CVID), but their pathogenesis remains poorly defined. Using high-throughput approaches, we aimed to identify, correlate, and determine the significance

Allergic-like disorders and asthma in patients with common variable immunodeficiency: a multi-center experience. Common variable immune deficiency (CVID) encompasses a variety of diseases characterized by disturbed immunoglobulin (Ig) production and various immune dysregulations. Scarce data are available regarding relationships between CVID and allergic diseases. Here we examined possible

Clinical and In Vitro Evidence Favoring Immunoglobulin Treatment of a Chronic Norovirus Infection in a Patient With Common Variable Immunodeficiency. Immunocompromised individuals can become chronically infected with norovirus, but effective antiviral therapies are not yet available. Treatments with nitazoxanide, ribavirin, interferon alpha-2a, and nasoduodenally administered immunoglobulins

Duodenal inflammation in Common variable immunodeficiency has altered transcriptional response to viruses. A substantial proportion of Common variable immunodeficiency (CVID) patients has duodenal inflammation of largely unknown aetiology. However, due to histological similarities with celiac disease, gluten sensitivity has been proposed as a potential mechanism. Herein we aimed to elucidate

Recurrent asthma exacerbations: co-existing asthma and common variable immunodeficiency. Common variable immunodeficiency is characterized by impaired B-cell differentiation and defective immunoglobulin production manifesting as recurrent respiratory tract infections. While the condition can masquerade as asthma, late diagnosis of CVID in known asthmatic is rarely reported. We present the case

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency. Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of common variable immunodeficiency (CVID). However, the causal link between NFKB1 variants and CVID has not been demonstrated experimentally and genetically, and there has been