Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.

ABSTRACT:

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's global immune status.

Results

We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transi

SUBMITTER: Diaz-Alberola I 

PROVIDER: S-EPMC9101713 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature