Treatment of CVID

PURPOSE: Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. This study was conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children. METHODS: A retrospective data analysis was conducted for children under 15 years diagnosed with IEI from the pediatric Allergy, Immunology, and Rheumatology Division-based registry at Queen Rania Children's Hospital, Amman, Jordan, between 2010 and 2022...

Common variable immunodeficiency (CVID) is an immune defect characterized by hypogammaglobulinemia and impaired development of B cells into plasma cells. As follicular helper T cells (TFH ) play a central role in humoral immunity, we examined TFH cells in CVID, and investigated whether an inducible T cell co-stimulator (ICOS) agonist, vopratelimab, could modulate TFH , B cell interactions and enhance immunoglobulin production. CVID subjects had decreased TFH17 and increased TFH1 subsets; this was associated with increased transitional B cells and decreased IgG+ B and IgD- IgM- CD27+ memory B cells...

Alcohol and drug use (ADU) poses a significant barrier to optimal HIV treatment outcomes for adolescents and youths living with HIV (AYLHIV). We aimed to investigate the prevalence and correlates of ADU among ALHIV in Ugandan fishing communities, areas characterized by high HIV and poverty rates. AYLHIV aged 18-24, who knew they were HIV-positive, were selected from six HIV clinics. Substance use was determined through self-report in the last 12 months and urine tests for illicit substances. Utilizing a socioecological framework, the study structured variables into a hierarchical logistic regression analysis to understand the multi-layered factors influencing ADU...

Common Variable Immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disorder characterised by impaired antibody production, leading to recurrent infections and an increased susceptibility to viral pathogens. This literature review aims to provide a comprehensive overview of CVID's relationship with viral infections, encompassing disease pathogenesis, key presenting features, specific monogenic susceptibilities, the impact of COVID-19, and existing treatment options. The pathogenesis of CVID involves complex immunological dysregulation, including defects in B cell development, antibody class switching, and plasma cell differentiation...

This study assessed the health-related quality of life (HRQoL) and residual symptom burden among virologically suppressed people living with human immunodeficiency virus (HIV) (PLWH) using a single-tablet regimen in Taiwan. This cross-sectional study administered a self-reported online survey between July and October 2021 to anonymised virologically suppressed PLWH aged ≥20 years. Demographic, HIV-related variables, EuroQol-5-dimensions (EQ-5D), visual analogue scale (VAS), and HIV Symptom Index were analysed...

BACKGROUND: Paediatric HIV data shows a variable and sometimes catastrophic response in the initial stage of ART regimen administration. The burden of disease that affects children in their first year of treatment is not comprehensively available. OBJECTIVE: Objective of our study was to describe patterns of admission in children; before ART initiation, within the first six months, and post-six months of ART between 2001 and 2016. METHODS: Principal caregivers of 260 children (45...

BACKGROUND: Common variable immunodeficiency (CVID) is a heterogeneous group of immune disorders. The patients are classified according to the clinical manifestation with the infection-only phenotype (CVIDinf ) and CVID with immune dysregulation (CVIDid ). METHODS: We performed a retrospective clinical analysis of 64 CVID patients (34 males, 53.13%; mean age: 41.4 years; SD: ±21.4 years). We divided the patients into subgroups according to the clinical manifestation (CVIDinf and CVIDid ) and according to B cell phenotypic profiling after performing flow cytometry with the use of the EUROclass classification...

Primary immunodeficiency Disorders (PIDS) are rare, mostly monogenetic conditions which can present to a number of specialties. Although infections predominate in most PIDs, some individuals can manifest autoimmune or inflammatory sequelae as their initial clinical presentation. Identifying patients with PIDs can be challenging, as some can present later in life. This is often seen in patients with Common Variable Immunodeficiency Disorders (CVID), where symptoms can begin in the sixth or even seventh decades of life...

Selective IgA deficiency (sIgAD) and Common Variable Immunodeficiency (CVID) and Transient Hypogammaglobulinemia of Infancy (THI) are the most frequent forms of primary antibody deficiencies. Difficulties in initial diagnosis, especially in the early childhood, the familiar occurrence of these diseases, as well as the possibility of progression to each other suggest common cellular and molecular patomechanism and a similar genetic background. In this review, we discuss both similarities and differences of these three humoral immunodeficiencies, focusing on current and novel therapeutic approaches...

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes severe, recurrent infections, lymphoproliferation, lymphoma, and other cancers, autoimmunity and enteropathy. Autosomal dominant variants in two independent genes have been demonstrated to cause APDS. Pathogenic variants in PIK3CD and PIK3R1, both of which encode components of the PI3-kinase, have been identified in subjects with APDS...

Congenital Myotonic Dystrophy (CMD) is an autosomal dominant hereditary disease caused by mutations in the dystrophia myotonica protein kinase gene. Patients with CMD often exhibit low immunoglobulin (Ig) G levels. While Ig replacement therapy for low IgG levels has been reported in several adult cases, there have been no reports on pediatric patients. This study presents a first pediatric case where Ig replacement therapy effectively eliminated susceptibility to infections. The CMD patient, a 1-year-old Japanese female with a history of premature birth and necrotizing enterocolitis, developed recurrent severe bacterial infections due to hypogammaglobulinemia...

Infection-related glomerulonephritis is an immunologically mediated glomerular injury after an infection. Glomerulonephritis may occur with the infection or after a variable latent period. Poststreptococcal glomerulonephritis (PSGN) is the prototype of infection-related glomerulonephritis. The streptococcal antigens, nephritis-associated plasmin-like receptor and streptococcal exotoxin B, have emerged as major players in the pathogenesis of PSGN. Although PSGN is the most common infection-related glomerulonephritis in children, in adults, glomerulonephritis is secondary to bacteria such as staphylococci, viruses such as hepatitis C, and human immunodeficiency virus, and, rarely, parasitic infections...

INTRODUCTION: Extrapulmonary tuberculosis (EPTB) adds to India's significant economic burden, with pericardial effusion being a potentially fatal complication. This case report highlights the need for early diagnosis and the feasibility of shorter-duration treatment for EPTB in developing countries. PRESENTATION: This case report describes a 19-year-old male from Southeast Asia who had a history of bronchiectasis involving the left lower lobe and the right middle lobe, which was cystic in nature, as well as multiple episodes of non-tuberculous pneumonia...

Chronic diarrhea poses a diagnostic challenge due to its diverse etiology, encompassing various gastrointestinal disorders. This case report emphasizes the clinical significance of considering common variable immunodeficiency (CVID) as a potential underlying cause in a patient presenting with chronic diarrhea. In this case study, we describe a 36-year-old female with a 9-year history of chronic diarrhea, recurrent sinopulmonary infections, and weight loss for 3 years, where previous evaluations failed to yield a diagnosis...

INTRODUCTION: Primary immunodeficiency diseases (PID) are defined by recurrent infections, allergies, autoimmunity, and malignancies. Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijmegen breakage syndrome (NBS), and Purine Nucleoside Phosphorylase (PNP) deficiency, which are considered as the primary involvement. Various pathological mechanisms, DNA repair disorders, metabolic abnormalities, and autoimmune phenomena have also been linked with neurological conditions...

Pityriasis rubra pilaris (PRP) is a rare papulosquamous reaction pattern with a significant impact on quality of life. Type I PRP is the most common PRP variant, presenting as erythematous papules emerging in a follicular distribution and later coalescing into plaques with characteristic islands of sparing; histologically, an alternating pattern of orthokeratosis and parakeratosis is considered the hallmark of PRP (checkerboard hyperkeratosis). Other PRP variants (types II-V) differ in their age of onset and clinical presentation...

We evaluated the psychometric properties of a measure consisting of items that assess current HIV care continuum engagement based on established definitions in the United States. At baseline, participants in this longitudinal study, which included three time points from 2015 to 2020, were 331 young Black sexual minority men ages 18-29 living with HIV in the southern United States residing in two large southern cities. Self-report items reflected four aspects of HIV care continuum engagement as binary variables: seeing a healthcare provider for HIV care, being on antiretroviral treatment, being retained in HIV care, and being virally suppressed...

Common variable immunodeficiency (CVID) has been subdivided into five phenotypes, including one marked by non-infectious enteropathies that lead to significant morbidity and mortality. We examined a large national registry of patients with CVID to better characterize this population and understand how the presence of enteropathy influences nutritional status, patient function, and the risk of additional non-infectious disorders in CVID patients. We also sought to illustrate the range of treatment strategies for CVID-associated enteropathies...

Immune thrombocytopenic purpura is one of the most common causes of low platelet count in the pediatric population. Secondary thrombocytopenia has a wide differential diagnosis in children, including rheumatological, hematological, and immunological etiologies. Underlying etiologies must be excluded if suspected before labeling the patient as primary thrombocytopenia. Here, we report two siblings with persistent and profound thrombocytopenia. A 10-year-old girl presented with profound and treatment-refractory thrombocytopenia...

BACKGROUND: Primary immunodeficiency (PI) is a group of heterogeneous disorders resulting from immune system defects. Over 70% of PI is undiagnosed, leading to increased mortality, co-morbidity and healthcare costs. Among PI disorders, combined immunodeficiencies (CID) are characterized by complex immune defects. Common variable immunodeficiency (CVID) is among the most common types of PI. In light of available treatments, it is critical to identify adult patients at risk for CID and CVID, before the development of serious morbidity and mortality...