RT Journal Article
T1 Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.
A1 Diaz-Alberola, Irene
A1 Espuch-Oliver, Andrea
A1 Garcia-Aznar, Jose Maria
A1 Ganoza-Gallardo, Christian
A1 Aguilera-Franco, Maria
A1 Sampedro, Antonio
A1 Jimenez, Pilar
A1 Lopez-Nevot, Miguel Angel
K1 CVID
K1 IKAROS
K1 IKZF1
K1 R162Q
K1 SARS-CoV-2
K1 T-cell response
K1 de novo mutation
K1 heterologous vaccine
K1 humoral response
K1 immune response
AB 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. 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. 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. 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.
PB MDPI AG
SN 2077-0383
YR 2022
FD 2022-04-18
LK http://hdl.handle.net/10668/21273
UL http://hdl.handle.net/10668/21273
LA en
NO Díaz-Alberola I, Espuch-Oliver A, García-Aznar JM, Ganoza-Gallardo C, Aguilera-Franco M, Sampedro A, et al. Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine. J Clin Med. 2022 Apr 20;11(9):2303.
NO This study was partially financed by Palex Medical S.A.
DS RISalud
RD Apr 9, 2025