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厄瓜多尔首例缺陷病例，在一名患有严重皮肤组织胞浆菌病的患者进行全外显子组测序后确诊。

First Case of Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.

作者信息

Pedroza Luis Alberto, Guerrero Nina, Stray-Pedersen Asbjørg, Tafur Cristina, Macias Roque, Muñoz Greta, Akdemir Zeynep Coban, Jhangiani Shalini N, Watkin Levi B, Chinn Ivan K, Lupski James R, Orange Jordan S

机构信息

Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito, Quito, Ecuador; Instituto de Microbiología, Universidad San Francisco de Quito, Quito, Ecuador.

Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito , Quito , Ecuador.

出版信息

Front Pediatr. 2017 Feb 10;5:17. doi: 10.3389/fped.2017.00017. eCollection 2017.

DOI:10.3389/fped.2017.00017
PMID:28239602
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5300990/
Abstract

Severe infections with are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an mutation at the gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features for the disease. Interestingly, the patient lives in a region endemic for histoplasmosis. The unusual infections in our case suggest that in children with severe histoplasmosis and resident in endemic areas, HIGM syndrome should be considered as a diagnosis.

摘要

继发性免疫缺陷疾病患者中常见严重感染。我们报告一名两岁半的先前健康男孩，患有播散性皮肤组织胞浆菌病。通过全外显子组测序，我们在 基因发现了一个 突变，提示诊断为高 IgM（HIGM）综合征，即便该疾病缺乏常见特征。有趣的是，该患者生活在组织胞浆菌病流行地区。我们病例中的不寻常感染提示，对于患有严重组织胞浆菌病且居住在流行地区的儿童，应考虑诊断为 HIGM 综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b56/5300990/611619a3efcb/fped-05-00017-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b56/5300990/611619a3efcb/fped-05-00017-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b56/5300990/611619a3efcb/fped-05-00017-g001.jpg

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J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16.
2
Histoplasmosis.组织胞浆菌病
Infect Dis Clin North Am. 2016 Mar;30(1):207-27. doi: 10.1016/j.idc.2015.10.009.
3
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
J Fungi (Basel). 2023 Jan 22;9(2):149. doi: 10.3390/jof9020149.
4
Histoplasmosis in Children; HIV/AIDS Not a Major Driver.儿童组织胞浆菌病；艾滋病毒/艾滋病并非主要驱动因素。
J Fungi (Basel). 2021 Jun 30;7(7):530. doi: 10.3390/jof7070530.
5
Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Infection in HIV-Negative Children.流式细胞术在 HIV 阴性儿童播散性感染相关原发性免疫缺陷症诊断中的应用。
Front Immunol. 2019 Sep 13;10:2189. doi: 10.3389/fimmu.2019.02189. eCollection 2019.
6
A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome.CD40LG基因的一种新型突变导致X连锁高IgM综合征。
Indian J Pediatr. 2018 Sep;85(9):788-789. doi: 10.1007/s12098-017-2526-7. Epub 2017 Dec 15.
7
Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.侵袭性真菌感染的细胞和分子缺陷——地方真菌病的启示
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