2016
DOI: 10.1136/jmedgenet-2015-103690
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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Abstract: Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEA… Show more

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Cited by 249 publications
(242 citation statements)
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“…[20][21][22][23] A multifactorial basis in the majority of CVID, and in extension PAD, would explain the vast variations in the clinical and immunological landscape seen in these patients. 2,14 The immunophenotypic characteristics found in our CVID group are comparable to those reported previously in the literature: increased naïve and transitional B cells, CD21 37,38 and decreased CCR7 expression on T cells, especially on cTfh cells. 38,39 It should be noted that the observed reduction of BAFF-R in CVID might be an overestimation because BAFF-R expression levels are lower on CD27 -B cells, the predominant B-cell subset in these patients.…”
Section: Discussionsupporting
confidence: 88%
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“…[20][21][22][23] A multifactorial basis in the majority of CVID, and in extension PAD, would explain the vast variations in the clinical and immunological landscape seen in these patients. 2,14 The immunophenotypic characteristics found in our CVID group are comparable to those reported previously in the literature: increased naïve and transitional B cells, CD21 37,38 and decreased CCR7 expression on T cells, especially on cTfh cells. 38,39 It should be noted that the observed reduction of BAFF-R in CVID might be an overestimation because BAFF-R expression levels are lower on CD27 -B cells, the predominant B-cell subset in these patients.…”
Section: Discussionsupporting
confidence: 88%
“…3,15,16 Monogenic defects have only been identified in a minority of cases with CVID. 14 Remarkably, some relatives with the same monogenic defect were found to be asymptomatic or suffer from a milder PAD phenotype such as IgGSD. [20][21][22][23] A multifactorial basis in the majority of CVID, and in extension PAD, would explain the vast variations in the clinical and immunological landscape seen in these patients.…”
Section: Discussionmentioning
confidence: 99%
“…TNFRSF13C (tumor necrosis factor receptor superfamily member 13C) encodes a receptor for BAFF (B cell activating factor), which enhances B cell survival in vitro and regulates the peripheral B cell population. TNFRSF13C is a principal receptor required for BAFF-mediated mature B cell survival and it has been reported to be associated with common variable immunodeficiency [45]. In our study, significantly decreased expression levels of CD79A , AICDA , CD19 , and TNFRSF13C have been observed in the BALF of the severe MPP group comparing to the mild MPP group.…”
Section: Discussionsupporting
confidence: 58%
“…Although diagnosis is characterized by low levels of immunoglobulins, a significant fraction of patients suffer from complications, some of which are autoimmune in nature including enteropathy and cytopenias. 1,2 The use of exome and genome sequencing has identified an increasing number of genes that are associated with CVID, 3,4 however, this raises the issue of determining whether individual mutations in such genes are functionally significant. Accordingly, functional dissection is required in order to validate the impact of gene mutations.…”
Section: Introductionmentioning
confidence: 99%