Data Availability
The datasets generated during the current study are available from the corresponding author on reasonable request.
References
Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol. 2014;26(6):454–70.
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.
van de Vosse E, van Dissel JT. IFN-gammaR1 defects: mutation update and description of the IFNGR1 variation database. Hum Mutat. 2017;38(10):1286–96.
Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004;364(9451):2113–21.
Li Y, Liu C, Ma A, He W, Qiu Q, Zhao Y, et al. Identification and drug susceptibility testing of the subspecies of Mycobacterium avium complex clinical isolates in mainland China. J Glob Antimicrob Resist. 2022;31:90–7.
Noma K, Mizoguchi Y, Tsumura M, Okada S. Mendelian susceptibility to mycobacterial diseases: state of the art. Clin Microbiol Infect. 2022;28(11):1429–34.
Author information
Authors and Affiliations
Contributions
Qi Luo drafted the manuscript. Runci Wang and Qiong Fu contributed to experimental verification. Feng Chen contributed to the mycobacterial evaluation. Zhen Tan made significant contributions to the diagnosis and treatment of the patient and revised the manuscript. All authors have read and approved the final manuscript.
Corresponding author
Ethics declarations
Ethics Approval
The study was approved by the Medical Ethics Committee of Xinhua Hospital affiliated to Shanghai Jiaotong University School.
Consent to Participate
Written informed consent was obtained from the parents.
Consent for Publication
The authors affirm that human research participants provided informed consent for the publication of the images in Supplemental Figure S1A, B, and C.
Competing Interests
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Luo, Q., Wang, R., Fu, Q. et al. Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection. J Clin Immunol 43, 1778–1781 (2023). https://doi.org/10.1007/s10875-023-01577-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-023-01577-6