Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0427-1
Abstract: TTC7A deficiency typically causes severe gastrointestinal manifestations such as multiple intestinal atresia or early-onset inflammatory bowel disease. In some cases, this is associated with severe combined immunodeficiency. Partial loss-of-function mutations appear to be associated with… read more here.
Keywords: phenotype; immunodeficiency; variable immunodeficiency; common variable ... See more keywords
Gastric Cancer Screening in Common Variable Immunodeficiency
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0546-3
Abstract: Individuals with common variable immunodeficiency (CVID) have an increased risk of gastric cancer, and gastrointestinal lymphoma, yet screening for premalignant gastric lesions is rarely offered routinely to these patients. Proposed screening protocols are not widely… read more here.
Keywords: risk gastric; variable immunodeficiency; gastric cancer; common variable ... See more keywords
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical immunology"
DOI: 10.1007/s10875-021-01146-9
Abstract: PURPOSE Fatty acid (FA) abnormalities are found in various inflammatory disorders and have been related to disturbed gut microbiota. Patients with common variable immunodeficiency (CVID) have inflammatory complications associated with altered gut microbial composition. We… read more here.
Keywords: variable immunodeficiency; fatty acids; common variable; gut microbial ... See more keywords
Comparison of various classifications for patients with common variable immunodeficiency (CVID) using measurement of B-cell subsets.
Sign Up to like & getrecommendations! Published in 2017 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2016.07.001
Abstract: BACKGROUND Common variable immunodeficiency (CVID) is a heterogeneous disease, characterised by hypogammaglobulinaemia leading to recurrent infections and various complications. The aim of this study was to classify CVID patients based on four known classifications (Paris,… read more here.
Keywords: variable immunodeficiency; cell subsets; common variable; cvid ... See more keywords
Clinical and immunological features of 44 common variable immunodeficiency patients: The experience of a single center in Turkey.
Sign Up to like & getrecommendations! Published in 2020 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2019.12.008
Abstract: INTRODUCTION AND OBJECTIVES Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency characterized by hypogammaglobinemia. Its heterogeneous clinical features include recurrent respiratory tract infections and other complications such as gastrointestinal,… read more here.
Keywords: immunodeficiency; variable immunodeficiency; diagnosis; clinical immunological ... See more keywords
The olfactory function in patients with common variable immunodeficiency.
Sign Up to like & getrecommendations! Published in 2019 at "European annals of otorhinolaryngology, head and neck diseases"
DOI: 10.1016/j.anorl.2018.02.003
Abstract: AIMS To determine the incidence of olfactory dysfunction in common variable immunodeficiency patients. To evaluate the correlation between olfactory dysfunction and chronic rhinosinusitis in this class of patients. MATERIALS AND METHODS Fifty patients, with a… read more here.
Keywords: patients common; olfactory function; variable immunodeficiency; common variable ... See more keywords
Impaired Akt phosphorylation in B-cells of patients with common variable immunodeficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical immunology"
DOI: 10.1016/j.clim.2016.09.009
Abstract: Common variable immunodeficiency (CVID) is a heterogeneous group of primary immunodeficiency characterized by recurrent infections. We evaluated whether defective PI3K/Akt/FoxO pathway could influence B-cell fate. Determination of B-cell subsets in CVD patients and healthy donors… read more here.
Keywords: immunodeficiency; variable immunodeficiency; common variable; cells patients ... See more keywords
Limited role of interferonâkappa (IFNK) truncating mutations in common variable immunodeficiency
Sign Up to like & getrecommendations! Published in 2017 at "Cytokine"
DOI: 10.1016/j.cyto.2017.03.005
Abstract: HighlightsWhole exome sequencing was performed to determine the genetic background of common variable immunodeficiency in two nonâconsanguineous German families.IFNK was found as the only candidate gene that harbored truncating mutations in affected members from both… read more here.
Keywords: variable immunodeficiency; truncating mutations; common variable; ifnk ... See more keywords
Comparison of clinical and immunological features and mortality in common variable immunodeficiency and agammaglobulinemia patients.
Sign Up to like & getrecommendations! Published in 2019 at "Immunology letters"
DOI: 10.1016/j.imlet.2019.05.001
Abstract: Common Variable Immunodeficiency (CVID) and agammaglobulinemia are two of the main types of symptomatic primary antibody deficiencies. The pathogenic origins of these two diseases are different; agammaglobulinemia is a group of inherited disorders that usually… read more here.
Keywords: variable immunodeficiency; agammaglobulinemia; common variable; mortality ... See more keywords
Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Clinical Immunology"
DOI: 10.1080/1744666x.2023.2198208
Abstract: ABSTRACT Introduction Patients with common variable immunodeficiency (CVID) have a high frequency of inflammatory complications like autoimmune cytopenias, interstitial lung disease and enteropathy. These patients have poor prognosis and effective, timely, and safe treatment of… read more here.
Keywords: common variable; cvid; inflammatory complications; treatment inflammatory ... See more keywords
Pulmonary Manifestations of Common Variable Immunodeficiency.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Thoracic Imaging"
DOI: 10.1097/rti.0000000000000350
Abstract: Common variable immunodeficiency (CVID) is associated with significant chronic lung disease. The purpose of this paper was to describe the clinical, radiologic, and pathologic findings of CVID-associated lung diseases. These include airways' disease, interstitial lung… read more here.
Keywords: lung disease; cvid associated; variable immunodeficiency; common variable ... See more keywords