Genetics and clinical phenotypes in common variable immunodeficiency
Common variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or autoimmune conditions, which are associated with i...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1272912/full |
| _version_ | 1797357616593108992 |
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| author | Charlotte Cunningham-Rundles Charlotte Cunningham-Rundles Charlotte Cunningham-Rundles Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Bertrand Boisson Bertrand Boisson Bertrand Boisson |
| author_facet | Charlotte Cunningham-Rundles Charlotte Cunningham-Rundles Charlotte Cunningham-Rundles Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Bertrand Boisson Bertrand Boisson Bertrand Boisson |
| author_sort | Charlotte Cunningham-Rundles |
| collection | DOAJ |
| description | Common variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or autoimmune conditions, which are associated with increased mortality. This aspect of CVID has been the focus of many studies, and dissecting the clinical phenotypes of CVID, has had the goal of providing biomarkers to identify these subjects, potentially at the time of diagnosis. With the application of whole exome (WES) and whole genome analyses, an increasing number of monogenic causes of CVID have been elucidated. From the standpoint of the practicing physician, an important question is whether the clinical phenotype, particularly the occurrence of autoinflammation of autoimmunity, might suggest the likelihood of identifying a causative mutation, and if possible the gene most likely to underlie CVID. We addressed this question in a patient group of 405 subjects diagnosed with CVID from one medical center. |
| first_indexed | 2024-03-08T14:47:49Z |
| format | Article |
| id | doaj.art-3a2aba5ee6774183b578f329f137924b |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-08T14:47:49Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-3a2aba5ee6774183b578f329f137924b2024-01-11T05:28:18ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-01-011410.3389/fgene.2023.12729121272912Genetics and clinical phenotypes in common variable immunodeficiencyCharlotte Cunningham-Rundles0Charlotte Cunningham-Rundles1Charlotte Cunningham-Rundles2Jean-Laurent Casanova3Jean-Laurent Casanova4Jean-Laurent Casanova5Jean-Laurent Casanova6Jean-Laurent Casanova7Bertrand Boisson8Bertrand Boisson9Bertrand Boisson10Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United StatesDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United StatesDivision of Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United StatesSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United StatesLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, FranceParis Cité Université, Imagine Institute, Paris, FranceDepartment of Pediatrics, Necker Hospital for Sick Children, Paris, FranceHoward Hughes Medical Institute, New York, NY, United StatesSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United StatesLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, FranceParis Cité Université, Imagine Institute, Paris, FranceCommon variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or autoimmune conditions, which are associated with increased mortality. This aspect of CVID has been the focus of many studies, and dissecting the clinical phenotypes of CVID, has had the goal of providing biomarkers to identify these subjects, potentially at the time of diagnosis. With the application of whole exome (WES) and whole genome analyses, an increasing number of monogenic causes of CVID have been elucidated. From the standpoint of the practicing physician, an important question is whether the clinical phenotype, particularly the occurrence of autoinflammation of autoimmunity, might suggest the likelihood of identifying a causative mutation, and if possible the gene most likely to underlie CVID. We addressed this question in a patient group of 405 subjects diagnosed with CVID from one medical center.https://www.frontiersin.org/articles/10.3389/fgene.2023.1272912/fullcommon variable immunodeficiencygeneticsautoimmunitylung diseasegranulomatous diseasecancer |
| spellingShingle | Charlotte Cunningham-Rundles Charlotte Cunningham-Rundles Charlotte Cunningham-Rundles Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Jean-Laurent Casanova Bertrand Boisson Bertrand Boisson Bertrand Boisson Genetics and clinical phenotypes in common variable immunodeficiency Frontiers in Genetics common variable immunodeficiency genetics autoimmunity lung disease granulomatous disease cancer |
| title | Genetics and clinical phenotypes in common variable immunodeficiency |
| title_full | Genetics and clinical phenotypes in common variable immunodeficiency |
| title_fullStr | Genetics and clinical phenotypes in common variable immunodeficiency |
| title_full_unstemmed | Genetics and clinical phenotypes in common variable immunodeficiency |
| title_short | Genetics and clinical phenotypes in common variable immunodeficiency |
| title_sort | genetics and clinical phenotypes in common variable immunodeficiency |
| topic | common variable immunodeficiency genetics autoimmunity lung disease granulomatous disease cancer |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1272912/full |
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