Features of lymphocyte subpopulations in patients with different forms of hyper-IgE syndrome
- 作者: Davydova N.V.1, Zinovieva N.V.1, Sudarikova E.V.1, Sevostyanova Y.N.1, Petrova Y.V.1, Borisova T.A.1, Galeeva E.V.1, Gildeeva G.N.2, Kozlov I.G.2
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隶属关系:
- G. Speransky City Children’s Hospital No. 9
- I. Sechenov First Moscow State Medical University (Sechenov University)
- 期: 卷 28, 编号 3 (2025)
- 页面: 631-638
- 栏目: SHORT COMMUNICATIONS
- URL: https://journal-vniispk.ru/1028-7221/article/view/319912
- DOI: https://doi.org/10.46235/1028-7221-17168-FOL
- ID: 319912
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Patients with hyper-IgE syndrome are characterized by eosinophilia, low levels of inflammatory markers, severe destructive pneumonia, chronic mucosal candidiasis, severe atopic dermatitis, skeletal lesions: osteopenia and pathological fractures, scoliosis, delayed change of primary teeth. The pathogenesis of this syndrome is based on defects in signal transduction from cytokine receptors, caused by mutations in the STAT3 gene (autosomal dominant form), ZNF341, DOCK8, PGM3 and CARD11 (autosomal recessive form) and in genes encoding cytokine receptor subunits (IL6ST, etc.). The aim of our study was to analyze lymphocyte subpopulations in patients with different forms of hyper-IgE syndrome. The study included 9 patients with hyper-IgE syndrome. Lymphocyte subpopulations were assessed by flow cytometry; total IgE, by immunoturbidimetry; DNA sequencing, by means of NGS methodology. Mutations in different exons of the STAT3 gene and in the IL6ST gene were detected in patients. No statistically significant differences were found between patients and control group of CD3 T cell subpopulations, i.e., CD4 T helpers (naive and memory cells), CD8 T cytotoxic (naive and memory cells), early thymic emigrants, Treg cells, T helpers (type 1 and 2) (p > 0.05). However, the subpopulation of T helpers 17 was significantly reduced, both in relative (p < 0.001) and absolute numbers (p = 0.003) only in patients with mutations in the STAT3 gene. In patients with hyper-IgE syndrome, we have found a reduction of both relative (p < 0.001) and absolute numbers of unswitched (p = 0.001) and switched memory B cells (p = 0.007). A decreased relative number of plasmablasts (p = 0.022) and activated B lymphocytes (p = 0.001) was also observed. The number of T helpers 17 depended on the type of hyper-IgE syndrome. Memory B cells were reduced in all mutation types. The method of assessing T helper 17 demonstrated its diagnostic efficiency. The differences were observed in clinical pattern and severity of the disease depending on the STAT3 protein domain mutation. However, further studies with a larger number of patients are required.
作者简介
N. Davydova
G. Speransky City Children’s Hospital No. 9
编辑信件的主要联系方式.
Email: nata1902@yandex.ru
PhD (Medicine), Doctor of Clinical Laboratory Diagnostics, Laboratory Diagnostic Department
俄罗斯联邦, MoscowN. Zinovieva
G. Speransky City Children’s Hospital No. 9
Email: nata1902@yandex.ru
PhD (Medicine), Allergist-Immunologist, Head, Department of Allergology and Immunology No. 1
俄罗斯联邦, MoscowE. Sudarikova
G. Speransky City Children’s Hospital No. 9
Email: nata1902@yandex.ru
Allergist-Immunologist, Department of Allergology and Immunology No. 1
俄罗斯联邦, MoscowYu. Sevostyanova
G. Speransky City Children’s Hospital No. 9
Email: nata1902@yandex.ru
Allergist-Immunologist, Department of Allergology and Immunology No. 1
俄罗斯联邦, MoscowYu. Petrova
G. Speransky City Children’s Hospital No. 9
Email: nata1902@yandex.ru
Pediatrist, Department of Allergology and Immunology No. 1
俄罗斯联邦, MoscowT. Borisova
G. Speransky City Children’s Hospital No. 9
Email: nata1902@yandex.ru
Allergist-Immunologist, Department of Allergology and Immunology No. 1
俄罗斯联邦, MoscowE. Galeeva
G. Speransky City Children’s Hospital No. 9
Email: nata1902@yandex.ru
Biologist, Head, Laboratory Diagnostic Department
俄罗斯联邦, MoscowG. Gildeeva
I. Sechenov First Moscow State Medical University (Sechenov University)
Email: nata1902@yandex.ru
PhD, MD (Pharmacy), Professor, Head, Department of Management and Organization of Drug Supply, Institute of Professional Education
俄罗斯联邦, MoscowI. Kozlov
I. Sechenov First Moscow State Medical University (Sechenov University)
Email: nata1902@yandex.ru
PhD, MD (Medicine), Professor, Department of Management and Organization of Drug Supply
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