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NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.

作者信息

Herlin Laura Krogh, Sørensen Signe Bech, Graakjaer Jesper Aagaard, Andersen Sisse, Schmidt Sigrun Alba Johannesdottir, Sommerlund Mette, Mogensen Trine H

机构信息

Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark.

Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

出版信息

J Clin Immunol. 2024 May 25;44(6):136. doi: 10.1007/s10875-024-01737-2.

DOI:10.1007/s10875-024-01737-2
PMID:38795145
Abstract
摘要

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NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.色素失禁症伴反复感染女性中的核因子κB激活与X染色体失活
J Clin Immunol. 2024 May 25;44(6):136. doi: 10.1007/s10875-024-01737-2.
2
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.非偏斜性 X 染色体失活导致伴失禁型色素失禁症的 NF-κB 必需调节剂（NEMO）Δ-外显子 5-自炎症综合征（NEMO-NDAS）在女性中发生。
J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2.
3
NEMO, NFkappaB signaling and incontinentia pigmenti.NEMO、核因子κB信号传导与色素失禁症
Curr Opin Genet Dev. 2006 Jun;16(3):282-8. doi: 10.1016/j.gde.2006.04.013. Epub 2006 May 2.
4
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.NEMO基因重排会损害核因子-κB激活，是色素失禁症的一个病因。国际色素失禁症（IP）协会。
Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114.
5
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.两名女性遗传性交界性大疱性表皮松解症伴 NEMO 杂合突变患者的免疫缺陷，通过脂多糖无反应性诊断。
J Clin Immunol. 2017 Aug;37(6):529-538. doi: 10.1007/s10875-017-0417-3. Epub 2017 Jul 12.
6
Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.色素失禁症：病理生理学分子基础的综述与更新
J Am Acad Dermatol. 2002 Aug;47(2):169-87; quiz 188-90. doi: 10.1067/mjd.2002.125949.
7
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.严重的神经影像学异常通常与 X 连锁显性遗传性尿失禁型色素失禁症白细胞循环 DNA 中的随机 X 染色体失活有关。
Mol Genet Metab. 2017 Nov;122(3):140-144. doi: 10.1016/j.ymgme.2017.07.001. Epub 2017 Jul 10.
8
Incontinentia pigmenti: a window to the role of NF-kappaB function.色素失禁症：了解核因子-κB功能作用的一扇窗口。
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9
[Two neonates with vesicular skin lesions due to incontinentia pigmenti].[两例因色素失禁症导致皮肤出现水疱性病变的新生儿]
Ned Tijdschr Geneeskd. 2001 Nov 10;145(45):2178-82.
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Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report.色素失禁症合并新生儿持续肺动脉高压的罕见新生儿表现：一例报告
J Perinatol. 2005 Apr;25(4):289-92. doi: 10.1038/sj.jp.7211250.

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Acta Derm Venereol. 2025 Jun 18;105:adv43101. doi: 10.2340/actadv.v105.43101.
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Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids.新生儿脑病性色素失禁症的单细胞RNA测序揭示了类固醇调节的广泛免疫激活。
Neurol Neuroimmunol Neuroinflamm. 2025 May;12(3):e200358. doi: 10.1212/NXI.0000000000200358. Epub 2025 Feb 28.
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Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.

本文引用的文献

1
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.一例伴有持续性黏膜炎症和免疫缺陷的非典型性遗传性交界性大疱性表皮松解症女性，由新型种系 IKBKG 错义突变引起。
J Clin Immunol. 2023 Nov;43(8):2165-2180. doi: 10.1007/s10875-023-01564-x. Epub 2023 Oct 13.
2
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology.揭开色素失禁症的奥秘：从DNA序列到病理生理学
Front Pediatr. 2022 Sep 6;10:900606. doi: 10.3389/fped.2022.900606. eCollection 2022.
3
Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2.
色素失禁症的患病率及临床特征：一项基于全国人口的研究。
Orphanet J Rare Dis. 2024 Dec 2;19(1):454. doi: 10.1186/s13023-024-03480-8.
一名患有色素失禁症且存在针对I型干扰素自身抗体的患者感染新型冠状病毒2后接受干扰素-β治疗。
J Clin Immunol. 2021 Jul;41(5):931-933. doi: 10.1007/s10875-021-01023-5. Epub 2021 Mar 25.
4
Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.利用 X 染色体失活模式分析失禁型色素失禁症中 IKBKG 突变的低水平嵌合体的分子分析。
Mol Genet Genomic Med. 2020 Dec;8(12):e1531. doi: 10.1002/mgg3.1531. Epub 2020 Oct 21.
5
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.NEMO 缺陷患者的 T 细胞功能障碍与其严重的临床病程相关。
J Clin Immunol. 2020 Apr;40(3):421-434. doi: 10.1007/s10875-019-00728-y. Epub 2020 Jan 21.
6
[Incontinentia pigmenti with defect in cellular immunity].伴有细胞免疫缺陷的色素失禁症
Bol Med Hosp Infant Mex. 2015 Sep-Oct;72(5):325-332. doi: 10.1016/j.bmhimx.2015.08.003. Epub 2015 Oct 9.
7
NF-κB signaling in inflammation.NF-κB 信号转导与炎症
Signal Transduct Target Ther. 2017;2:17023-. doi: 10.1038/sigtrans.2017.23. Epub 2017 Jul 14.
8
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.两名女性遗传性交界性大疱性表皮松解症伴 NEMO 杂合突变患者的免疫缺陷，通过脂多糖无反应性诊断。
J Clin Immunol. 2017 Aug;37(6):529-538. doi: 10.1007/s10875-017-0417-3. Epub 2017 Jul 12.
9
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.由IKBKG/NEMO基因分支点突变引起的外胚层发育不良伴免疫缺陷。
J Allergy Clin Immunol. 2016 Dec;138(6):1706-1709.e4. doi: 10.1016/j.jaci.2016.05.030. Epub 2016 Jun 29.
10
EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.EDA-ID 和 IP，同一枚硬币的两面：如何同一 IKBKG/NEMO 突变影响 NF-κB 通路可以导致免疫缺陷和/或炎症。
Int Rev Immunol. 2015;34(6):445-59. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13.