一例完全性γ干扰素受体2缺陷患者成功进行造血干细胞移植：病例报告及文献综述 - Suppr

Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.

作者信息

Tovo Pier-Angelo, Garazzino Silvia, Saglio Francesco, Scolfaro Carlo, Bustamante Jacinta, Badolato Raffaele, Fagioli Franca

机构信息

Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.

Department of Pediatrics, Infectious Diseases Unit, Regina Margherita Children's Hospital, Turin, Italy.

出版信息

J Clin Immunol. 2020 Nov;40(8):1191-1195. doi: 10.1007/s10875-020-00855-x. Epub 2020 Sep 10.

DOI:10.1007/s10875-020-00855-x

PMID:32909233

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7567729/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc7/7567729/43b3b9b8be22/10875_2020_855_Fig1_HTML.jpg

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N Engl J Med. 2020 May 7;382(19):1811-1822. doi: 10.1056/NEJMoa1911326.

Inherited human IFN-γ deficiency underlies mycobacterial disease.

J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.

The monogenic basis of human tuberculosis.

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Mendelian susceptibility to mycobacterial disease: recent discoveries.

Hum Genet. 2020 Jun;139(6-7):993-1000. doi: 10.1007/s00439-020-02120-y. Epub 2020 Feb 5.

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Front Immunol. 2019 Aug 21;10:1964. doi: 10.3389/fimmu.2019.01964. eCollection 2019.

Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation.

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Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections.

Blood. 2018 Feb 1;131(5):533-545. doi: 10.1182/blood-2017-10-812859. Epub 2017 Dec 12.

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Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.

作者信息

Tovo Pier-Angelo, Garazzino Silvia, Saglio Francesco, Scolfaro Carlo, Bustamante Jacinta, Badolato Raffaele, Fagioli Franca

机构信息

Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.

Department of Pediatrics, Infectious Diseases Unit, Regina Margherita Children's Hospital, Turin, Italy.

出版信息

J Clin Immunol. 2020 Nov;40(8):1191-1195. doi: 10.1007/s10875-020-00855-x. Epub 2020 Sep 10.

DOI:10.1007/s10875-020-00855-x

PMID:32909233

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7567729/

Abstract

摘要

相似文献

Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.

J Clin Immunol. 2020 Nov;40(8):1191-1195. doi: 10.1007/s10875-020-00855-x. Epub 2020 Sep 10.

Successful Matched Related Bone Marrow Transplantation in a Patient with Autosomal Dominant Interferon Gamma Receptor 1 Deficiency.

J Clin Immunol. 2020 Oct;40(7):1045-1047. doi: 10.1007/s10875-020-00826-2. Epub 2020 Jul 21.

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency.

Bone Marrow Transplant. 2006 Jul;38(1):75-6. doi: 10.1038/sj.bmt.1705399. Epub 2006 May 22.

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.

Pediatr Infect Dis J. 2009 Jul;28(7):658-60. doi: 10.1097/INF.0b013e318195092e.

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14.

Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey.

J Pediatr. 2004 Dec;145(6):806-12. doi: 10.1016/j.jpeds.2004.08.021.

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18.

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J Clin Immunol. 2021 May;41(4):829-833. doi: 10.1007/s10875-020-00934-z. Epub 2021 Jan 27.

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J Clin Immunol. 2021 Jan;41(1):238-242. doi: 10.1007/s10875-020-00871-x. Epub 2020 Oct 6.

J Allergy Clin Immunol. 2016 Nov;138(5):1489-1491. doi: 10.1016/j.jaci.2016.06.017. Epub 2016 Jul 14.

引用本文的文献

A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency.

J Clin Immunol. 2024 Apr 27;44(5):111. doi: 10.1007/s10875-024-01716-7.

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J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5.

Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFNγ immunity.

Eur J Dermatol. 2022 Sep 7;32(4):495-504. doi: 10.1684/ejd.2022.4281.

Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series.

Ann Clin Microbiol Antimicrob. 2022 Mar 1;21(1):8. doi: 10.1186/s12941-022-00500-y.

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.

Front Immunol. 2021 Feb 25;12:631298. doi: 10.3389/fimmu.2021.631298. eCollection 2021.

本文引用的文献

Treatment of Nontuberculous Mycobacterial Pulmonary Disease: An Official ATS/ERS/ESCMID/IDSA Clinical Practice Guideline.

Clin Infect Dis. 2020 Aug 14;71(4):e1-e36. doi: 10.1093/cid/ciaa241.

Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis.

N Engl J Med. 2020 May 7;382(19):1811-1822. doi: 10.1056/NEJMoa1911326.

Inherited human IFN-γ deficiency underlies mycobacterial disease.

J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.

The monogenic basis of human tuberculosis.

Hum Genet. 2020 Jun;139(6-7):1001-1009. doi: 10.1007/s00439-020-02126-6. Epub 2020 Feb 13.

Mendelian susceptibility to mycobacterial disease: recent discoveries.

Hum Genet. 2020 Jun;139(6-7):993-1000. doi: 10.1007/s00439-020-02120-y. Epub 2020 Feb 5.

A Novel Splice Site Mutation in in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.

Front Immunol. 2019 Aug 21;10:1964. doi: 10.3389/fimmu.2019.01964. eCollection 2019.

Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation.

J Clin Immunol. 2019 Apr;39(3):257-260. doi: 10.1007/s10875-019-00621-8. Epub 2019 Apr 5.

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections.

Blood. 2018 Feb 1;131(5):533-545. doi: 10.1182/blood-2017-10-812859. Epub 2017 Dec 12.

Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.

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Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.

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