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Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11.

作者信息

Nguyen Amie, Lu Henry Y, Turvey Stuart E, Snow Andrew L

机构信息

Department of Allergy and Immunology, Kaiser Permanente Los Angeles Medical Center, Los Angeles, CA, USA.

Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.

出版信息

J Clin Immunol. 2023 May;43(4):709-713. doi: 10.1007/s10875-023-01440-8. Epub 2023 Feb 2.

DOI:10.1007/s10875-023-01440-8
PMID:36729250
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9894509/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e13b/9894509/a0bcfa6f7a2d/10875_2023_1440_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e13b/9894509/a0bcfa6f7a2d/10875_2023_1440_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e13b/9894509/a0bcfa6f7a2d/10875_2023_1440_Fig1_HTML.jpg

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本文引用的文献

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Clin Exp Dermatol. 2021 Oct;46(7):1334-1335. doi: 10.1111/ced.14686. Epub 2021 Jun 2.
2
Multiplexed Functional Assessment of Genetic Variants in CARD11.CARD11 基因变异的多重功能评估
Am J Hum Genet. 2020 Dec 3;107(6):1029-1043. doi: 10.1016/j.ajhg.2020.10.015. Epub 2020 Nov 16.
3
Germline CBM-opathies: From immunodeficiency to atopy.胚系 CBM 相关疾病：从免疫缺陷到特应性。
J Exp Med. 2023 Jul 3;220(7). doi: 10.1084/jem.20221105. Epub 2023 Jun 5.
J Allergy Clin Immunol. 2019 May;143(5):1661-1673. doi: 10.1016/j.jaci.2019.03.009.
4
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.与CARD11缺陷中体细胞第二位点突变导致的功能逆转相关的欧门综合征。
Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19.