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Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution.

作者信息

Carden Marcus A, Connelly James A, Weinzierl Elizabeth P, Kobrynski Lisa J, Chandrakasan Shanmuganathan

机构信息

Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, 2015 Uppergate Drive, ECC Room 418, Atlanta, GA, 30030, USA.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.

出版信息

J Clin Immunol. 2018 Jul;38(5):546-549. doi: 10.1007/s10875-018-0518-7. Epub 2018 Jun 29.

DOI:10.1007/s10875-018-0518-7
PMID:29956078
Abstract
摘要

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J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.
2
Thymus transplantation for complete DiGeorge syndrome: European experience.完全性DiGeorge综合征的胸腺移植：欧洲经验
J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16. doi: 10.1016/j.jaci.2017.03.020. Epub 2017 Apr 8.
3
Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome.
EJHaem. 2022 Mar 16;3(2):521-525. doi: 10.1002/jha2.413. eCollection 2022 May.
4
NUP-98 Rearrangements Led to the Identification of Candidate Biomarkers for Primary Induction Failure in Pediatric Acute Myeloid Leukemia.NUP98 重排导致了儿科急性髓系白血病原代诱导失败的候选生物标志物的鉴定。
Int J Mol Sci. 2021 Apr 27;22(9):4575. doi: 10.3390/ijms22094575.
5
SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.SRP54 突变通过对 XBP1 剪接的显性负效应诱导先天性中性粒细胞减少症。
Blood. 2021 Mar 11;137(10):1340-1352. doi: 10.1182/blood.2020008115.
一名完全性DiGeorge综合征患者接受非亲缘脐血移植后T细胞成功重建。
J Allergy Clin Immunol. 2016 Nov;138(5):1471-1473.e4. doi: 10.1016/j.jaci.2016.04.048. Epub 2016 Jun 16.
4
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.外显子组测序在一个具有炎症性肠病的 2 代家族中发现了一个新的 FOXP3 突变。
J Pediatr Gastroenterol Nutr. 2014 May;58(5):561-8. doi: 10.1097/MPG.0000000000000302.
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J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. doi: 10.1016/j.jaci.2009.07.053. Epub 2009 Dec 29.