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A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

作者信息

Shabani Mahsima, Aleyasin Soheila, Kashef Sara, Zoghi Samaneh, Deswarte Caroline, Casanova Jean-Laurent, Bustamante Jacinta, Rezaei Nima

机构信息

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.

Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

出版信息

J Clin Immunol. 2019 Feb;39(2):127-130. doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5.

DOI:10.1007/s10875-019-00595-7
PMID:30719685
Abstract
摘要

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Pathogens. 2024 Feb 25;13(3):203. doi: 10.3390/pathogens13030203.
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Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.重组 IFN-γ1b 治疗遗传性 IFN-γ 缺陷患者。
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本文引用的文献

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Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature.一名患有部分显性干扰素-γR1缺乏症男孩的多灶性复发性骨髓炎和噬血细胞性淋巴组织细胞增生症：病例报告及文献复习
Front Pediatr. 2017 May 3;5:75. doi: 10.3389/fped.2017.00075. eCollection 2017.
2
Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment.儿童噬血细胞性淋巴组织细胞增生症：发病机制与治疗。
Front Pediatr. 2016 May 13;4:47. doi: 10.3389/fped.2016.00047. eCollection 2016.
3
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.
成人起病的孟德尔遗传性分枝杆菌病易感性：一例病例报告及系统文献综述
Heliyon. 2023 Nov 25;9(12):e22632. doi: 10.1016/j.heliyon.2023.e22632. eCollection 2023 Dec.
4
Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.一名男孩因母源6号染色体单亲二倍体及IFNGR1新型剪接变异导致完全性IFN-γR1缺乏症
J Clin Immunol. 2021 May;41(4):834-836. doi: 10.1007/s10875-021-00970-3. Epub 2021 Jan 27.
5
Disseminated Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.一名因亚多态性拷贝数变异和新型剪接位点变异的复合杂合性导致完全性γ干扰素受体1缺陷的儿童发生播散性感染。
J Pediatr Genet. 2020 Sep;9(3):186-192. doi: 10.1055/s-0039-1700803. Epub 2019 Nov 4.
6
Inherited human IFN-γ deficiency underlies mycobacterial disease.遗传性人干扰素-γ 缺乏导致分枝杆菌病。
J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.
7
Mendelian susceptibility to mycobacterial disease: recent discoveries.孟德尔易感性对分枝杆菌病的影响：最新发现。
Hum Genet. 2020 Jun;139(6-7):993-1000. doi: 10.1007/s00439-020-02120-y. Epub 2020 Feb 5.
8
LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.完全性常染色体隐性干扰素-γ受体1缺乏症背后的LINE-1介导的AluYa5插入
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6
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.显性和隐性干扰素γ受体1缺陷的临床特征
Lancet. 2004;364(9451):2113-21. doi: 10.1016/S0140-6736(04)17552-1.
7
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.完全性干扰素γ受体缺陷儿童血浆中高水平的干扰素γ
Pediatrics. 2001 Apr;107(4):E48. doi: 10.1542/peds.107.4.e48.