| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-11-27 |
| タイトル |
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タイトル |
Case Report: Novel IRF2BP2 variant in a Japanese patient with impaired B-cell differentiation, Th1 polarization, and systemic immune dysregulation |
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言語 |
en |
| 言語 |
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|
言語 |
eng |
| キーワード |
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言語 |
en |
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主題Scheme |
Other |
|
主題 |
IRF2BP2 variant |
| キーワード |
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言語 |
en |
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主題Scheme |
Other |
|
主題 |
common variable immunodeficiency disorder (CVID) |
| キーワード |
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言語 |
en |
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主題Scheme |
Other |
|
主題 |
Th1 polarization |
| キーワード |
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言語 |
en |
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主題Scheme |
Other |
|
主題 |
STAT1 signaling |
| キーワード |
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言語 |
en |
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主題Scheme |
Other |
|
主題 |
B-cell differentiation |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 著者 |
Endo, Yushiro
Koga, Tomohiro
Kurushima, Shota
Tomokawa, Takuya
Mishima, Hiroyuki
Yoshiura, Koh-ichiro
Matsumoto, Tadashi
Kawakami, Atsushi
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| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Interferon regulatory factor 2 binding protein 2 (IRF2BP2) is a transcriptional corepressor involved in immune regulation via IRF1-mediated interferon signaling inhibition. Pathogenic IRF2BP2 variants are associated with common variable immunodeficiency, primarily affecting B-cell maturation. We report a 47-year-old female with immunodeficiency and systemic inflammation, including primary biliary cholangitis and unclassified arthritis, who was detected to carry a novel heterozygous de novo missense variant in the IRF2BP2 gene (c.1663T>A; p. Cys555Ser). Immunophenotyping revealed naïve B-cell predominance, with a loss of memory B cells and impaired plasmablast differentiation, indicating late-stage disturbed B-cell differentiation/maturation. CD4+ T cells demonstrated Th1 polarization with reduced Th2 subsets, whereas Th17 and Treg populations exhibited no obvious changes. Considering that IRF2BP2 negatively regulates STAT1-driven transcription via IRF1 suppression, the observed Th1 polarization suggests improved STAT1 activity. This case underscores the combined humoral and cellular immune dysregulation due to IRF2BP2 dysfunction, expanding the clinical spectrum to encompass inflammatory phenotype. |
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言語 |
en |
| 書誌情報 |
en : Frontiers in Immunology
巻 16,
p. art. no. 1662899,
発行日 2025-10-30
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| 出版者 |
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出版者 |
Frontiers Media SA |
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言語 |
en |
| ISSN |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
1664-3224 |
| DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.3389/fimmu.2025.1662899 |
| 権利 |
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権利情報 |
© 2025 Endo, Koga, Kurushima, Tomokawa, Mishima, Yoshiura, Matsumoto and Kawakami. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
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言語 |
en |
| 著者版フラグ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 引用 |
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内容記述タイプ |
Other |
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内容記述 |
Frontiers in Immunology, 16, art. no. 1662899; 2025 |
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言語 |
en |
FI16_1662899.pdf (2 MB)
