Immunology (primary Immunodeficiency Syndromes
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
Common variable immunodeficiency (CVID) is the most frequent PID encountered in later childhood and adult life. It is a heterogeneous disorder of unknown aetiology in most cases. Several genes have been identified recently in consanguineous families, which underly a very small minority of cases, but most cases are likely to have polygenic basis with multiple environmental triggers. There is usually no clear pattern of inheritance, but there is an increased familial incidence, and in some families a suggestion of autosomal dominant inheritance with variable penetrance. Coinheritance with certain HLA haplotypes (HLA-A1, HLA-B8, HLA-DR3 and HLA-DQB1*0201) has been found in some families. Other family members may have selective IgA deficiency, and minor immunoglobulin abnormalities in infancy or early childhood may evolve to become CVID.
Sarcoidosis extra-pulmonary manifestations
Muhunthan Thillai, David R Moller, Keith C Meyer in Clinical Handbook of Interstitial Lung Disease, 2017
Sarcoidosis-associated cytopenias (anaemia, neutropenia and thrombocytopenia) may occur by the following main mechanisms: hypersplenism, bone marrow infiltration and associated immune-mediated processes such as immune thrombocytopenia (ITP) and auto-immune haemolytic anaemia. Splenomegaly, which has been reported to occur in 10% of sarcoidosis patients (162), can induce hypersplenism with a splenic sequestration leading to platelet destruction, moderate anaemia and neutropenia. Common variable immunodeficiency (CVID) is associated with cases of systemic sarcoidosis, but can also mimic sarcoidosis by causing bronchiectasis with typically poorly formed granulomas on bronchial biopsy. In this setting, contrary to sarcoidosis, with CVID there is often a history of recurrent infections, hypogammaglobulinemia and different thoracic presentations (163,164). The cause for the association of sarcoidosis with ITP remains unknown, and the clinical course of ITP and sarcoidosis may differ. (165,166). ITP presentation is usually severe, but response to treatment is favorable in most cases (166). The clinical course of sarcoidosis in those with associated ITP is often severe with chronic multiple organ involvement.
Primary immunodeficiency diseases
Gabriel Virella in Medical Immunology, 2019
The term common variable immunodeficiency (CVID) is applied to patients with hypogammaglobulinemia but with detectable B cells (>1% of normal). The designation CVID derives from the fact that this is the more common form of agammaglobulinemia and its pathogenesis is variable. This heterogeneous disorder is defined by the diagnostic criteria of low Ig levels (IgG and IgA, or IgM) for age, deficient antibody responses, as measured by the response to both polysaccharide and protein vaccines, variable age of onset, generally after 2 years of age, with a peak in early childhood and a second peak after age 20 years. Serum immunoglobulin levels are variably depressed (two standard deviations below the normal level for age or lower) for at least two of the major isotypes (IgG, IgA, or IgM). As a rule, patients produce some nonfunctional antibody of one of the major immunoglobulin isotypes. In contrast to congenital agammaglobulinemia, patients with CVID have low or normal numbers of B cells in peripheral blood but most have low numbers of class-switched and memory B cells.
Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey
Published in Immunological Investigations, 2021
Begum Ozbek, Cagman Tan, Ismail Yaz, Can Kosukcu, Saliha Esenboga, Pınar Gur Cetinkaya, Deniz Cagdas, Ilhan Tezcan
Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies characterized by recurrent infections and poor response to vaccines with defects in B cell differentiation and antibody production (Yong et al. 2011). It is the most common symptomatic primary immunodeficiency in children and adults. Prevalence of CVID among societies is variable. It is between 1/25.000 and 1/50.000 with an estimated average prevalence of 1/30.000 and it is 1.4/100.000 in Turkey (Gathmann et al. 2014; Kilic et al. 2013). Its etiology is not known exactly and monogenic causes have been identified in only 2-10% of patients with CVID (Bonilla et al. 2016; van Schouwenburg et al. 2015). However, in most cases, the genetic cause is not yet known. With the next-generation sequencing methods, some genes have been shown to be responsible for the disease. HLA alleles are associated with various diseases and relative risk calculations are performed (Bodis et al. 2018).Therefore, the association of CVID with HLA alleles is important in terms of elucidating the immunological and genetic mechanisms of the disease.
Malignancy in common variable immunodeficiency: a systematic review and meta-analysis
Published in Expert Review of Clinical Immunology, 2019
Fatemeh Kiaee, Gholamreza Azizi, Hosein Rafiemanesh, Hamed Zainaldain, Fatema Sadaat Rizvi, Mahla Alizadeh, Mahnaz Jamee, Sara Mohammadi, Sima Habibi, Laleh Sharifi, Farhad Jadidi-Niaragh, Sabahat Haghi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency (PID) disorder characterized by impaired differentiation of B cells to memory B cells and plasma cells [1]. Diagnosis of CVID requires reduced levels of at least two immunoglobulin isotypes (IgG with IgA and/or IgM) and an impaired specific antibody (natural antibodies or response against new antigens) [2]. Additionally, T-cell abnormalities and defects in other immune components are reported in approximately one-third of patients with CVID and contribute to the more variable clinical presentations of the disease [2–4]. CVID is a heterogeneous disease and presents variable clinical manifestations; the most common being recurrent bacterial infections. Besides infections, these patients have an increased tendency to develop autoimmune disorder (AD), enteropathy, lymphoproliferative disease, and malignancy [5,6].
Response to letter to the editor: the clinical utility of diagnostic T cell assays for COVID-19
Published in Expert Review of Clinical Immunology, 2021
Rohan Ameratunga, See-Tarn Woon, Anthony Jordan, Hilary Longhurst, Euphemia Leung, Richard Steele, Klaus Lehnert, Russell Snell, Anna E. S. Brooks
With greater numbers of infected plasma donors and others who have been vaccinated, subcutaneous and intravenous immunoglobulin (SCIG/IVIG) preparations will contain increasing titers of SARS-CoV-2 antibodies. The majority of patients with Common Variable Immunodeficiency Disorders (CVID) have suboptimal responses to vaccines [6]. However two recent studies have shown there is a hierarchy of vaccine responses in such patients: tetanus toxoid and H. influenzae type B (HIB) vaccines elicit much greater antibody responses than diphtheria toxoid or Pneumovax® [7,8]. It is hoped COVID-19 vaccines, like tetanus toxoid and HIB, will elicit a robust immune response in most patients with CVID. Since most CVID patients are on SCIG/IVIG, a T cell assay is required to demonstrate antecedent infection or responses to COVID-19 vaccines.
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