新型SAMD9变异体导致的MIRAGE综合征采用皮下免疫球蛋白治疗。 - Suppr

Suppr

超能文献

Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.

作者信息

Peek Christopher T, Silva-Carmona Manuel, Bertuch Alison A, Nicholas Sarah K, Vogel Tiphanie P

机构信息

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

Texas Children's Hospital, Houston, TX, USA.

出版信息

J Clin Immunol. 2024 Sep 30;45(1):19. doi: 10.1007/s10875-024-01808-4.

DOI:10.1007/s10875-024-01808-4

PMID:39348076

Abstract

摘要

相似文献

Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.

J Clin Immunol. 2024 Sep 30;45(1):19. doi: 10.1007/s10875-024-01808-4.

A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases.

Pediatr Blood Cancer. 2019 Jul;66(7):e27726. doi: 10.1002/pbc.27726. Epub 2019 Mar 21.

Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.

Biol Blood Marrow Transplant. 2019 Nov;25(11):2186-2196. doi: 10.1016/j.bbmt.2019.07.007. Epub 2019 Jul 12.

Emerging phenotypes linked to variants in and MIRAGE syndrome.

Front Endocrinol (Lausanne). 2022 Aug 18;13:953707. doi: 10.3389/fendo.2022.953707. eCollection 2022.

MIRAGE Syndrome Caused by a c.3406G>C (p. Glu1136Gln) Mutation in the Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Front Endocrinol (Lausanne). 2021 Sep 29;12:742495. doi: 10.3389/fendo.2021.742495. eCollection 2021.

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the Gene.

J Clin Res Pediatr Endocrinol. 2020 Jun 3;12(2):206-211. doi: 10.4274/jcrpe.galenos.2019.2019.0053. Epub 2019 Jun 18.

Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome.

Cancer Genet. 2020 Jul;245:42-48. doi: 10.1016/j.cancergen.2020.06.002. Epub 2020 Jun 14.

[Novel germline SAMD9 mutation in an elderly patient with myelodysplastic syndrome].

Rinsho Ketsueki. 2022;63(8):865-869. doi: 10.11406/rinketsu.63.865.

Discovery of MIRAGE syndrome.

Pediatr Int. 2022 Jan;64(1):e15283. doi: 10.1111/ped.15283.

A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.

Clin Genet. 2024 Feb;105(2):202-208. doi: 10.1111/cge.14439. Epub 2023 Oct 13.

本文引用的文献

Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.

J Clin Immunol. 2021 Apr;41(3):709-711. doi: 10.1007/s10875-020-00964-7. Epub 2021 Jan 9.

Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.

Blood Adv. 2018 Jan 23;2(2):120-125. doi: 10.1182/bloodadvances.2017012682.

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27.

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16.

Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.

J Invest Dermatol. 2011 Mar;131(3):662-9. doi: 10.1038/jid.2010.387. Epub 2010 Dec 16.

Anti-inflammatory actions of intravenous immunoglobulin.

Annu Rev Immunol. 2008;26:513-33. doi: 10.1146/annurev.immunol.26.021607.090232.

FcgammaRIII-dependent inhibition of interferon-gamma responses mediates suppressive effects of intravenous immune globulin.

Immunity. 2007 Jan;26(1):67-78. doi: 10.1016/j.immuni.2006.11.010.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验