Common Variable Immunodeficiency Associated with a De Novo
CVID
IKAROS
IKZF1
R162Q
SARS-CoV-2
T-cell response
de novo mutation
heterologous vaccine
humoral response
immune response
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
20 Apr 2022
20 Apr 2022
Historique:
received:
30
03
2022
revised:
15
04
2022
accepted:
18
04
2022
entrez:
14
5
2022
pubmed:
15
5
2022
medline:
15
5
2022
Statut:
epublish
Résumé
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 The R162Q variant of the
Sections du résumé
BACKGROUND AND AIMS
OBJECTIVE
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
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
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
CONCLUSIONS
CONCLUSIONS
The R162Q variant of the
Identifiants
pubmed: 35566429
pii: jcm11092303
doi: 10.3390/jcm11092303
pmc: PMC9101713
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
J Investig Allergol Clin Immunol. 2018;28(1):53-56
pubmed: 29461212
J Clin Immunol. 2020 Jan;40(1):24-64
pubmed: 31953710
Haematologica. 2018 Apr;103(4):565-574
pubmed: 29519871
Emerg Infect Dis. 2021 Aug;27(8):2174-2178
pubmed: 34102097
J Allergy Clin Immunol. 2021 Sep;148(3):739-749
pubmed: 34087242
J Investig Allergol Clin Immunol. 2020;30(1):14-34
pubmed: 30741636
J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1763-1770
pubmed: 30776527
Pediatr Blood Cancer. 2012 Apr;58(4):591-7
pubmed: 21548011
Front Immunol. 2021 Oct 04;12:727850
pubmed: 34671350
Immunol Allergy Clin North Am. 2020 Aug;40(3):461-470
pubmed: 32654692
J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7
pubmed: 28927821
Clin Gastroenterol Hepatol. 2022 Jan;20(1):162-172.e9
pubmed: 34509643
Int Immunopharmacol. 2021 Nov;100:108095
pubmed: 34619529
Lancet. 2021 Dec 18;398(10318):2258-2276
pubmed: 34863358
J Allergy Clin Immunol. 2017 Jul;140(1):223-231
pubmed: 27939403
Front Immunol. 2019 Apr 16;10:568
pubmed: 31057532
J Clin Immunol. 2022 Feb;42(2):240-252
pubmed: 34787773
Expert Rev Clin Immunol. 2021 Apr;17(4):407-416
pubmed: 33691560
J Clin Invest. 2018 Jul 2;128(7):3071-3087
pubmed: 29889099
Clin Immunol. 2011 Nov;141(2):161-8
pubmed: 21889412
Curr Opin Immunol. 2021 Oct;72:176-185
pubmed: 34153571
J Allergy Clin Immunol Pract. 2021 Oct;9(10):3575-3583
pubmed: 34182162
J Clin Immunol. 2022 May;42(4):716-727
pubmed: 35290571
N Engl J Med. 2022 Mar 17;386(11):1046-1057
pubmed: 35081293
J Clin Immunol. 2021 Jan;41(1):1-10
pubmed: 33392855
J Allergy Clin Immunol. 2018 Aug;142(2):699-702.e12
pubmed: 29705243
Vaccine. 2016 May 5;34(21):2417-2423
pubmed: 27055021
N Engl J Med. 2016 Mar 17;374(11):1032-1043
pubmed: 26981933
J Allergy Clin Immunol Pract. 2016 Jan-Feb;4(1):38-59
pubmed: 26563668
Genes Dis. 2019 Oct 15;7(1):26-37
pubmed: 32181273