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A novel mutation in SLC39A7 identified in a patient with autosomal recessive agammaglobulinemia: The impact of the J Project.

作者信息

Erdős Melinda, Mironska Kristina, Kareva Lidia, Stavric Katarina, Hasani Arijeta, Lányi Árpád, Kállai Judit, Maródi László

机构信息

Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

出版信息

Pediatr Allergy Immunol. 2022 Jun;33(6):e13805. doi: 10.1111/pai.13805.

DOI:10.1111/pai.13805
PMID:35754127
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9327717/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/125a/9327717/124b9f617aac/PAI-33-0-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/125a/9327717/f1658f39c580/PAI-33-0-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/125a/9327717/124b9f617aac/PAI-33-0-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/125a/9327717/f1658f39c580/PAI-33-0-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/125a/9327717/124b9f617aac/PAI-33-0-g001.jpg

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本文引用的文献

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A Rose Amongst the Thorns: the Mission of the J Project in a Conflictual World.荆棘丛中的一朵玫瑰：J项目在冲突世界中的使命。
J Clin Immunol. 2022 Aug;42(6):1151-1155. doi: 10.1007/s10875-022-01285-7. Epub 2022 May 9.
2
Persistently Increased Anti-cytokine Antibodies Without Clinical Disease in a Boy with APS1 Genotype.一名具有APS1基因型的男孩体内抗细胞因子抗体持续升高但无临床疾病表现
J Clin Immunol. 2022 Feb;42(2):433-436. doi: 10.1007/s10875-021-01164-7. Epub 2021 Dec 23.
3
Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.
J Exp Med. 2023 Jul 3;220(7). doi: 10.1084/jem.20221105. Epub 2023 Jun 5.
4
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.三十个 J 项目国家 2004 年至 2021 年期间免疫先天缺陷患者的护理。
Front Immunol. 2022 Dec 16;13:1032358. doi: 10.3389/fimmu.2022.1032358. eCollection 2022.
无丙种球蛋白血症：从X连锁型到常染色体显性遗传型疾病
Clin Rev Allergy Immunol. 2022 Aug;63(1):22-35. doi: 10.1007/s12016-021-08870-5. Epub 2021 Jul 9.
4
Editorial: Advances in Primary Immunodeficiency in Central-Eastern Europe.社论：中东欧原发性免疫缺陷病的进展
Front Immunol. 2021 May 14;12:667727. doi: 10.3389/fimmu.2021.667727. eCollection 2021.
5
Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype.新型 STAT-3 获得性功能变异与低丙种球蛋白血症和反复感染表型。
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