"Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype"

作者全名："Luo, Xianze; Liu, Qing; Zhou, Lina; Tang, Xuemei; Zhao, Xiaodong; Zhang, Zhiyong"

作者地址："[Luo, Xianze; Liu, Qing; Zhou, Lina; Tang, Xuemei; Zhao, Xiaodong; Zhang, Zhiyong] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Rheumatol & Immunol, Chongqing Key Lab Child Infect & Immun,Minist Educ, Chongqing, Peoples R China"

通信作者："Zhao, XD; Zhang, ZY (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Rheumatol & Immunol, Chongqing Key Lab Child Infect & Immun,Minist Educ, Chongqing, Peoples R China."

来源：BMC PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000976927200002

JCR分区：Q2

影响因子：2

年份：2023

卷号：23

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Combined immunodeficiency(1); lymphoma(2); Hematopoietic stem cell transplantation(3); Primary Immunodeficiency(4); ZAP-70 deficiency(5)

摘要："Zeta(zeta)-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare autosomal recessive primary immunodeficiency disease. Little is known about this disease. In this study, we report two patients to extend the range of clinical phenotypes and immunophenotypes associated with ZAP-70 mutations. We describe the clinical, genetic, and immunological phenotypes of two patients with ZAP-70 deficiency in China, and the data are also compared with the literature. Case 1 presented with leaky severe combined immunodeficiency with low to the absence of CD8 + T cells, while case 2 suffered from a recurrent respiratory infection and had a past medical history of non-EBV-associated Hodgkin's lymphoma. Sequencing revealed novel compound heterozygous mutations in ZAP-70 of these patients. Case 2 is the second ZAP-70 patient presenting a normal CD8 + T cell number. These two cases have been treated with hematopoietic stem cell transplantation. Selective CD8 + T cell loss is an essential feature of the immunophenotype of ZAP-70 deficiency patients, but there are exceptions. Hematopoietic stem cell transplantation can provide excellent long-term immune function and resolution of clinical problems."

基金机构：Central Government Guides Local Science and Technology Development Projects - Demonstration of Science and Technology Innovation projects

基金资助正文：This work was supported by Central Government Guides Local Science and Technology Development Projects - Demonstration of Science and Technology Innovation projects