Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combi...
Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency
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Author / Creator
Shi, Xiaoqi , Cao, Xiuli , Huang, Meiying , Zhang, Pingping , Yang, Guangli , Ren, Aiyan , Dai, Xin , Chen, Ran , Yang, Zhigang , Cai, Zeyuan , Chen, Yan , Zhao, Xiaodong , Huang, Pei and Du, Zuochen
Publisher
New York: Springer US
Journal title
Language
English
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Publisher
New York: Springer US
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Scope and Contents
Contents
AIOLOS, a vital member of the IKAROS protein family, plays a significant role in lymphocyte development and function through DNA binding and protein–protein interactions. Mutations in the
IKZF3
gene, which encodes AIOLOS, lead to a rare combined immunodeficiency often linked with infections and malignancy. In this study, we evaluated a 1-year...
Alternative Titles
Full title
Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency
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Record Identifier
TN_cdi_proquest_miscellaneous_3153649616
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3153649616
Other Identifiers
ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-024-01706-9
