Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report
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 t...
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BMC
2025-04-01
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| Series: | BMC Infectious Diseases |
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| Online Access: | https://doi.org/10.1186/s12879-025-10975-7 |
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| author | Xiaona Liang Hanlin Liang Siqiao Liang Yan Ning Zengtao Luo Quanfang Chen Zhiyi He |
| author_facet | Xiaona Liang Hanlin Liang Siqiao Liang Yan Ning Zengtao Luo Quanfang Chen Zhiyi He |
| author_sort | Xiaona Liang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d3d2510a460247748def2b187947ebe3 |
| institution | DOAJ |
| issn | 1471-2334 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Infectious Diseases |
| spelling | doaj-art-d3d2510a460247748def2b187947ebe32025-08-20T03:14:05ZengBMCBMC Infectious Diseases1471-23342025-04-012511610.1186/s12879-025-10975-7Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case reportXiaona Liang0Hanlin Liang1Siqiao Liang2Yan Ning3Zengtao Luo4Quanfang Chen5Zhiyi He6Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityDepartment of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityDepartment of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityDepartment of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityDepartment of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityDepartment of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityDepartment of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical UniversityAbstract 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.https://doi.org/10.1186/s12879-025-10975-7Nontuberculous mycobacterial infectionAnti-interferon-α autoantibodyImmunodeficiencyRecombinase activating gene |
| spellingShingle | Xiaona Liang Hanlin Liang Siqiao Liang Yan Ning Zengtao Luo Quanfang Chen Zhiyi He Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report BMC Infectious Diseases Nontuberculous mycobacterial infection Anti-interferon-α autoantibody Immunodeficiency Recombinase activating gene |
| title | Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report |
| title_full | Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report |
| title_fullStr | Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report |
| title_full_unstemmed | Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report |
| title_short | Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report |
| title_sort | refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to rag mutation and production of anti interferon α autoantibodies a case report |
| topic | Nontuberculous mycobacterial infection Anti-interferon-α autoantibody Immunodeficiency Recombinase activating gene |
| url | https://doi.org/10.1186/s12879-025-10975-7 |
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