biostudies-literatureUnknown11(9)Diaz-Alberola I<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 transiJournal of clinical medicine2303https://www.ebi.ac.uk/biostudies/studies/S-EPMC9101713biostudies-literatureCommon Variable Immunodeficiency Associated with a De Novo <i>IKZF1</i> Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.PMC9101713Aguilera-Franco MSampedro AGarcia-Aznar JMGanoza-Gallardo CLopez-Nevot MADiaz-Alberola IEspuch-Oliver AJimenez PfalseCommon Variable Immunodeficiency Associated with a De Novo <i>IKZF1</i> Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.<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 transi2022-01-01T00:00:00Z2022 Apr2025-04-20T03:04:56.005Z2024-11-15T05:02:52.8ZS-EPMC91017133556642910.3390/jcm11092303