Association of NK cell subsets and cytotoxicity with FCGR3A gene polymorphism in functional NK cell deficiency
Rev. Assoc. Med. Bras. (1992, Impr.)
;
70(2): e20230872, 2024. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1535084
ABSTRACT
SUMMARY OBJECTIVE:
The purpose of this study was to assess the association between clinical, laboratory, and functional analyses and polymorphism in the FCGR3A gene in individuals with functional NK cell deficiency.METHODS:
A total of 15 functional NK cell deficiency patients and 10 age-matched healthy controls underwent NK cell subgroup, cytotoxicity, and FCGR3A whole-exome analysis with next-generation sequencing.RESULTS:
Three different NK cell subsets (CD56brightCD16neg, CD56brightCD16int, and CD56dimCD16hi) were identified. No statistically significant difference was found in the ratio of CD56brightCD16neg cells between patients and controls. CD56brightCD16int and CD56dimCD16hi ratios were found to be significantly lower in patients. As a result of NK cell cytotoxicity analysis, a proportional decrease of K562 amount between patients and controls was found to be statistically significant (p<0.001). In the FCGR3A whole-exome analysis, all patients were found to be homozygous mutant for the c.526G > T (p.V176F) in exon 4, while three patients were homozygous wild type and 12 patients were heterozygous for the c.197T>A (p.L66H) in exon 3.CONCLUSION:
In this study, a group of pediatric patients with suspected functional NK cell deficiency were evaluated and the findings indicated that NK subsets, cytotoxicity results, and FCGR3A gene polymorphism were found to be correlated with the clinical features. We conclude that this kind of study might contribute to follow-up the patients in time.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Idioma:
Inglês
Revista:
Rev. Assoc. Med. Bras. (1992, Impr.)
Assunto da revista:
EducaÆo em Sa£de
/
GestÆo do Conhecimento para a Pesquisa em Sa£de
/
Medicina
Ano de publicação:
2024
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Turquia
Instituição/País de afiliação:
Necmettin Erbakan University/TR
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