Bibliographic Details
| Title: |
Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report |
| Authors: |
Xiaona Liang, Hanlin Liang, Siqiao Liang, Yan Ning, Zengtao Luo, Quanfang Chen, Zhiyi He |
| Source: |
BMC Infectious Diseases, Vol 25, Iss 1, Pp 1-6 (2025) |
| Publisher Information: |
BMC, 2025. |
| Publication Year: |
2025 |
| Collection: |
LCC:Infectious and parasitic diseases |
| Subject Terms: |
Nontuberculous mycobacterial infection, Anti-interferon-α autoantibody, Immunodeficiency, Recombinase activating gene, Infectious and parasitic diseases, RC109-216 |
| More Details: |
Abstract Background Nontuberculous mycobacterial infectious diseases are associated with host immunological status. Neutralizing anti-interferon (IFN)-γ autoantibodies have been considered as a significant cause of nontuberculous mycobacterial infections. However, another autoantibody specifically targeting interferon-α, occurring in patients with nontuberculous mycobacterial infection, has been rarely reported. Case presentation We report the case of a 23-year-old female who developed refractory nontuberculous mycobacterial infection and subsequently manifested skin lesions and motor disorder of muscles. The laboratory examination results showed elevated levels of globulin and immunoglobulin, as well as local deposits of amyloid material in pleural sections. Additionally, various tissue biopsies showed no evidence of malignancy. After 6 months of anti-nontuberculous mycobacterial therapy, the patient recovered normal temperature but developed progressive pulmonary lesions. The patient received steroids and methotrexate treatment and her skin lesions as well limitation of muscle movement improved. Further evaluation revealed a hidden immunodeficiency with positive anti-interferon-α autoantibodies and recombinase activating gene (RAG) mutation. Conclusions This case highlights alternation of infection and immune dysregulation, likely resulting from RAG mutation and production of anti-interferon-α autoantibodies. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1471-2334 |
| Relation: |
https://doaj.org/toc/1471-2334 |
| DOI: |
10.1186/s12879-025-10975-7 |
| Access URL: |
https://doaj.org/article/d3d2510a460247748def2b187947ebe3 |
| Accession Number: |
edsdoj.3d2510a460247748def2b187947ebe3 |
| Database: |
Directory of Open Access Journals |
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