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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

作者信息

Marangi Giuseppe, Garcovich Simone, Sante Gabriele Di, Orteschi Daniela, Frangella Silvia, Scaldaferri Franco, Genuardi Maurizio, Peris Ketty, Gurrieri Fiorella, Zollino Marcella

机构信息

Institute of Genomic Medicine, F. Policlinico Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo F. Vito 1, IT-00168 Rome, Italy.

出版信息

Acta Derm Venereol. 2020 Jan 23;100(1):adv00038. doi: 10.2340/00015555-3370.

DOI:10.2340/00015555-3370
PMID:31709449
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9128914/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b9a/9128914/d02d7f250db5/ActaDV-100-1-5634-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b9a/9128914/d02d7f250db5/ActaDV-100-1-5634-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b9a/9128914/d02d7f250db5/ActaDV-100-1-5634-g001.jpg

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本文引用的文献

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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.原发性免疫缺陷病中的造血干细胞移植：现状与未来展望
Front Pediatr. 2019 Aug 8;7:295. doi: 10.3389/fped.2019.00295. eCollection 2019.
2
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.一种新型纯合 CARMIL2 变异导致的婴儿期起病结肠炎和嗜酸性粒细胞病，无反复感染的独特表现。
J Clin Immunol. 2019 May;39(4):430-439. doi: 10.1007/s10875-019-00631-6. Epub 2019 May 11.
3
A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.
Cancers (Basel). 2021 Sep 23;13(19):4752. doi: 10.3390/cancers13194752.
4
A Novel Pathogenic Variant in () Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.一种新型致病性变异导致 () 肌钙蛋白微管相关蛋白 2 缺乏和 EBV 相关平滑肌肿瘤。
Front Immunol. 2020 Jun 18;11:884. doi: 10.3389/fimmu.2020.00884. eCollection 2020.
5
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.人类遗传剖析乳头瘤病毒驱动的疾病：对其发病机制的新认识。
Hum Genet. 2020 Jun;139(6-7):919-939. doi: 10.1007/s00439-020-02183-x. Epub 2020 May 20.
6
CARMIL2-related immunodeficiency manifesting with photosensitivity.与CARMIL2相关的免疫缺陷伴光敏性表现。
Pediatr Dermatol. 2020 Jul;37(4):695-697. doi: 10.1111/pde.14173. Epub 2020 Apr 27.
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Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.外源性白细胞介素 2 可挽救新型盖帽蛋白调节因子和肌球蛋白 1 连接子 2 突变患者体外 T 细胞的激活和增殖。
Clin Exp Immunol. 2020 Jun;200(3):215-227. doi: 10.1111/cei.13432. Epub 2020 Apr 18.
一种导致联合免疫缺陷的新型CARMIL2突变，表现为皮炎、真菌和病毒皮肤感染以及选择性抗体缺陷。
J Clin Immunol. 2019 Apr;39(3):274-276. doi: 10.1007/s10875-019-00628-1. Epub 2019 Apr 18.
4
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Br J Dermatol. 2018 Feb;178(2):335-349. doi: 10.1111/bjd.15870. Epub 2018 Jan 2.
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Reference values for T, B and NK human lymphocyte subpopulations in adults.成人T、B和NK人淋巴细胞亚群的参考值。
Data Brief. 2017 Apr 21;12:400-404. doi: 10.1016/j.dib.2017.04.019. eCollection 2017 Jun.
7
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.“外显子组测序在一个患有婴儿肌纤维瘤病的家族中鉴定出NDRG4基因的一个新的纯合变异（林哈雷斯等人，2014年）”结果证明是由CARMIL2基因突变引起的EBV阳性平滑肌瘤病。
Eur J Med Genet. 2018 Feb;61(2):106. doi: 10.1016/j.ejmg.2017.02.002. Epub 2017 Feb 20.
8
A human immunodeficiency syndrome caused by mutations in CARMIL2.由 CARMIL2 突变引起的人类免疫缺陷综合征。
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A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.在三个患有疣、传染性软疣和T细胞功能障碍的挪威家庭中发现一种潜在的奠基者变异。
Mol Genet Genomic Med. 2016 Sep 17;4(6):604-616. doi: 10.1002/mgg3.237. eCollection 2016 Nov.
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Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.双等位基因RLTPR突变的人类中T细胞和B细胞内在的双重缺陷。
J Exp Med. 2016 Oct 17;213(11):2413-2435. doi: 10.1084/jem.20160576. Epub 2016 Sep 19.