A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 T cells.
作者信息
Babayeva Royala, Mongellaz Cedric, Karakus Ibrahim Serhat, Cansever Murat, Bilgic Eltan Sevgi, Catak Mehmet Cihangir, Bulutoglu Alper, Kendir Demirkol Yasemin, Eser Metin, Karakoc-Aydiner Elif, Ozen Ahmet, Zimmermann Valérie S, Taylor Naomi, Baris Safa
机构信息
Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey.
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
出版信息
Pediatr Allergy Immunol. 2022 Mar;33(3):e13756. doi: 10.1111/pai.13756.
Abstract
摘要
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Pediatr Allergy Immunol. 2022 Mar;33(3):e13756. doi: 10.1111/pai.13756.
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ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency.ZAP-70 突变：一例家族性自身免疫性溶血性贫血和免疫缺陷病例。
BMJ Case Rep. 2024 Mar 18;17(3):e258835. doi: 10.1136/bcr-2023-258835.
2
Combined immunodeficiency caused by pathogenic variants in the C-terminal SH2 domain.由 C 末端 SH2 结构域中的致病性变异引起的联合免疫缺陷
Front Immunol. 2023 May 29;14:1155883. doi: 10.3389/fimmu.2023.1155883. eCollection 2023.
本文引用的文献
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Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling.ZAP70基因中的新型复合杂合突变导致具有正常下游体外信号传导的重症联合免疫缺陷（SCID）表型
J Clin Immunol. 2021 Feb;41(2):470-472. doi: 10.1007/s10875-020-00913-4. Epub 2020 Nov 13.
2
Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review.49 例 ZAP-70 缺陷患者的临床、免疫和遗传特征：系统评价。
Front Immunol. 2020 May 5;11:831. doi: 10.3389/fimmu.2020.00831. eCollection 2020.
3
Two novel mutations in ZAP70 gene that result in human immunodeficiency.ZAP70基因中的两个导致人类免疫缺陷的新突变。
Clin Immunol. 2017 Oct;183:278-284. doi: 10.1016/j.clim.2017.09.005. Epub 2017 Sep 11.
4
Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India.来自印度的一例伴有新突变的ZAP-70缺陷型重症联合免疫缺陷（SCID）患者的低T细胞受体切除环（TREC）。
Blood Cells Mol Dis. 2017 Jun;65:95-96. doi: 10.1016/j.bcmd.2016.10.022. Epub 2016 Nov 5.
5
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.一种由ZAP-70基因的低表达和激活突变共同导致的新型人类自身免疫综合征。
J Exp Med. 2016 Feb 8;213(2):155-65. doi: 10.1084/jem.20150888. Epub 2016 Jan 18.
6
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.人类中ZAP70的亚效突变会导致迟发性免疫缺陷，且不会引发自身免疫。
Eur J Immunol. 2009 Jul;39(7):1966-76. doi: 10.1002/eji.200939385.
7
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.临床异质性可能会妨碍ZAP70缺陷患者的诊断。
Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29.
8
Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients.严重联合免疫缺陷中经胎盘获得的母体T淋巴细胞：121例患者的研究
Blood. 2001 Sep 15;98(6):1847-51. doi: 10.1182/blood.v98.6.1847.
9
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J Biol Chem. 2000 May 26;275(21):15832-8. doi: 10.1074/jbc.M908568199.
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