两名CD40缺陷患者接受异基因造血干细胞移植治疗后获得成功结果。 - Suppr

Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST.

作者信息

Al-Dhekri Hasan, Al-Sum Zobaida, Al-Saud Bandar, Al-Mousa Hamoud, Ayas Mouhab, Al-Muhsen Saleh, Arnaout Rand, Al-Seraihy Amal, Hawwari A, Al-Ghonaium Abdulaziz

出版信息

Clin Immunol. 2012 Apr;143(1):96-8. doi: 10.1016/j.clim.2012.01.012. Epub 2012 Feb 1.

DOI:10.1016/j.clim.2012.01.012

PMID:22342113

Abstract

摘要

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Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST.两名CD40缺陷患者接受异基因造血干细胞移植治疗后获得成功结果。

Clin Immunol. 2012 Apr;143(1):96-8. doi: 10.1016/j.clim.2012.01.012. Epub 2012 Feb 1.

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.由于CD40缺陷导致的高免疫球蛋白M综合征：临床、分子及免疫学特征

Immunol Rev. 2005 Feb;203:48-66. doi: 10.1111/j.0105-2896.2005.00229.x.

CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans.CD40-CD40L 非依赖型 Ig 基因高突变提示人类中存在第二条 B 细胞多样化途径。

Proc Natl Acad Sci U S A. 2001 Jan 30;98(3):1166-70. doi: 10.1073/pnas.98.3.1166.

Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation.简短报告：通过异基因骨髓移植纠正X连锁高IgM综合征。

N Engl J Med. 1995 Aug 17;333(7):426-9. doi: 10.1056/NEJM199508173330705.

Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency.同种异体干细胞移植使用清髓性和强度降低的预处理方案治疗主要组织相容性复合体 II 类缺陷患者。

Biol Blood Marrow Transplant. 2010 Jun;16(6):818-23. doi: 10.1016/j.bbmt.2010.01.002. Epub 2010 Jan 14.

Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgM.

Bone Marrow Transplant. 1998 Dec;22(11):1111-4. doi: 10.1038/sj.bmt.1701497.

Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).伴正常或升高IgM的X连锁免疫球蛋白缺陷（HIGMX-1）的分子病理学

Immunol Rev. 1994 Apr;138:87-104. doi: 10.1111/j.1600-065x.1994.tb00848.x.

Pediatr Transplant. 2009 Sep;13(6):785-9. doi: 10.1111/j.1399-3046.2008.01028.x. Epub 2008 Nov 26.

Defects of class-switch recombination.类别转换重组缺陷

J Allergy Clin Immunol. 2006 Apr;117(4):855-64. doi: 10.1016/j.jaci.2006.01.043.

Hyperimmunoglobulin syndrome due to CD40 deficiency: possibly the first case from India.因CD40缺乏导致的高免疫球蛋白血症综合征：可能是来自印度的首例病例。

J Postgrad Med. 2015 Jan-Mar;61(1):46-8. doi: 10.4103/0022-3859.147053.

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Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review.3型高IgM综合征中的复合杂合性：病例报告与文献综述

J Clin Immunol. 2024 Feb 16;44(3):64. doi: 10.1007/s10875-024-01666-0.

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.CD40 缺陷患者的临床和免疫学特征、遗传变异及转归。

J Clin Immunol. 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1.

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.TREC 和 KREC 谱分析作为各种先天性免疫缺陷患者胸腺和骨髓输出的代表。

Clin Exp Immunol. 2020 Oct;202(1):60-71. doi: 10.1111/cei.13484. Epub 2020 Jul 21.

Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome.调控 CD40/CD40L 通路治疗高 IgM 综合征的前景。

Innate Immun. 2018 Jan;24(1):4-10. doi: 10.1177/1753425917739681. Epub 2017 Nov 13.

The hyper IgM syndromes.高IgM综合征

Clin Rev Allergy Immunol. 2014 Apr;46(2):120-30. doi: 10.1007/s12016-013-8378-7.

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Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST.

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