{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(9)"],"submitter":["Diaz-Alberola I"],"pubmed_abstract":["<h4>Background and aims</h4>Common variable immunodeficiency (CVID) comprises a group of diseases with heterogeneous clinical and immunological manifestations. Several mutations have been identified in genes encoding proteins essential for immune function. Our aim was to phenotypically and genotypically characterize a patient diagnosed with CVID and study his response to the SARS-CoV-2 vaccine.<h4>Methods</h4>We performed a next-generation sequencing analysis, a CMIA, and an ELISA to analyze the humoral and cellular response to the SARS-CoV-2 vaccine, respectively. We also employed flow cytometry and immunoturbidimetry to assess the patient's global immune status.<h4>Results</h4>We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transi"],"journal":["Journal of clinical medicine"],"pagination":["2303"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9101713"],"repository":["biostudies-literature"],"pubmed_title":["Common Variable Immunodeficiency Associated with a De Novo <i>IKZF1</i> Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine."],"pmcid":["PMC9101713"],"pubmed_authors":["Aguilera-Franco M","Sampedro A","Garcia-Aznar JM","Ganoza-Gallardo C","Lopez-Nevot MA","Diaz-Alberola I","Espuch-Oliver A","Jimenez P"],"additional_accession":[]},"is_claimable":false,"name":"Common Variable Immunodeficiency Associated with a De Novo <i>IKZF1</i> Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.","description":"<h4>Background and aims</h4>Common variable immunodeficiency (CVID) comprises a group of diseases with heterogeneous clinical and immunological manifestations. Several mutations have been identified in genes encoding proteins essential for immune function. Our aim was to phenotypically and genotypically characterize a patient diagnosed with CVID and study his response to the SARS-CoV-2 vaccine.<h4>Methods</h4>We performed a next-generation sequencing analysis, a CMIA, and an ELISA to analyze the humoral and cellular response to the SARS-CoV-2 vaccine, respectively. We also employed flow cytometry and immunoturbidimetry to assess the patient's global immune status.<h4>Results</h4>We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transi","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-20T03:04:56.005Z","creation":"2024-11-15T05:02:52.8Z"},"accession":"S-EPMC9101713","cross_references":{"pubmed":["35566429"],"doi":["10.3390/jcm11092303"]}}