{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T03:01:21Z","timestamp":1760151681932,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T00:00:00Z","timestamp":1650412800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background and Aims: 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. Methods: 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\u2019s global immune status. Results: We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transition from guanine to adenine at position c.485 of the IKZF1 gene in heterozygosity, giving rise to the R162Q variant, which was not present in his parents. Conclusions: The R162Q variant of the IKZF1 gene has been associated with CVID type 13, but always with an autosomal dominant inheritance with high penetrance. Therefore, we present for the first time a case of CVID associated with a de novo heterozygous R162Q variant in the IKZF1 gene in a patient with a low humoral immune response to the complete COVID-19 vaccination program.<\/jats:p>","DOI":"10.3390\/jcm11092303","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T03:46:11Z","timestamp":1650512771000},"page":"2303","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8458-612X","authenticated-orcid":false,"given":"Irene","family":"D\u00edaz-Alberola","sequence":"first","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, 18012 Granada, Spain"},{"name":"Programa de Doctorado en Biomedicina, Universidad de Granada, 18016 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9013-3621","authenticated-orcid":false,"given":"Andrea","family":"Espuch-Oliver","sequence":"additional","affiliation":[{"name":"Hospital General Nuestra Se\u00f1ora del Prado, Talavera de la Reina, 45600 Toledo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Garc\u00eda-Aznar","sequence":"additional","affiliation":[{"name":"Health in Code S. L., 15008 A Coru\u00f1a, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Ganoza-Gallardo","sequence":"additional","affiliation":[{"name":"Health in Code S. L., 15008 A Coru\u00f1a, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Aguilera-Franco","sequence":"additional","affiliation":[{"name":"Servicio de Microbiolog\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Sampedro","sequence":"additional","affiliation":[{"name":"Servicio de Microbiolog\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, 18012 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3465-6062","authenticated-orcid":false,"given":"Miguel \u00c1ngel","family":"L\u00f3pez-Nevot","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, 18012 Granada, Spain"},{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular e Inmunolog\u00eda III, Universidad de Granada, 18016 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.coi.2021.05.010","article-title":"There Is No Gene for CVID\u2014Novel Monogenetic Causes for Primary Antibody Deficiency","volume":"72","author":"Ramirez","year":"2021","journal-title":"Curr. 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