Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant-Reference-Cited by-同舟云学术

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Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant

Published:2021-01-27 Issue:4 Volume:41 Page:834-836
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Zhang Ping,Ying Wenjing,Wu Bingbing,Liu Renchao,Wang Huijun,Wang Xiaochuan,Lu Yulan^ORCID

Funder

the Shanghai Key Laboratory of Birth Defects

Research projects of the Shanghai municipal health and family planning committee

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-021-00970-3.pdf

Reference10 articles.

1. van de Vosse E, van Dissel JT. IFN-γR1 defects: mutation update and description of the IFNGR1 variation database. Hum Mutat. 2017;38(10):1286–96. https://doi.org/10.1002/humu.23302.

2. Ying W, Liu D, Dong X, Wang W, Hui X, Hou J, et al. Current status of the management of Mendelian susceptibility to mycobacterial disease in Mainland China. J Clin Immunol. 2019;39(6):600–10. https://doi.org/10.1007/s10875-019-00672-x.

3. Rosain J, Deswarte C, Hancioglu G, Oleaga-Quintas C, Kutlug S, Kartal I, et al. LINE-1-mediated AluYa5 insertion underlying complete autosomal recessive IFN-gammaR1 deficiency. J Clin Immunol. 2019;39(7):739–42. https://doi.org/10.1007/s10875-019-00667-8.

4. Shabani M, Aleyasin S, Kashef S, Zoghi S, Deswarte C, Casanova JL, et al. A novel recessive mutation of interferon-gamma receptor 1 in a patient with mycobacterium tuberculosis in bone marrow aspirate. J Clin Immunol. 2019;39(2):127–30. https://doi.org/10.1007/s10875-019-00595-7.

5. Dong X, Liu B, Yang L, Wang H, Wu B, Liu R, et al. Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort. J Med Genet. 2020;57(8):558–66. https://doi.org/10.1136/jmedgenet-2019-106377.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical features associated with maternal uniparental disomy for chromosome 6;Molecular Cytogenetics;2024-07-29

2. Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency;Journal of Clinical Immunology;2024-02-16

3. BCG-vaccine;Reactions Weekly;2021-06

4. Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea;Frontiers in Genetics;2021-05-06

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