Disseminated BCGosis in an infant with mendelian susceptibility to mycobacterial diseases: A case report

Abstract

Rationale: Primary immunodeficiency disorders can be fatal especially in infants. Prompt recognition with a comprehensive medical history, genetic evaluation, and appropriate treatment can be lifesaving in a few subtypes.

Patient concerns: A 4-month-old male infant presented with axillary swelling, fever, and ulcerative lesions. Despite care at multiple facilities, symptoms persisted, raising concern for an underlying immunodeficiency. The patient's sibling had similar symptoms and died at six months, suggesting a genetic predisposition.

Diagnosis: Mendelian susceptibility to mycobacterial disease, IFNGR2 deficiency.

Interventions: The patient was treated with tailored anti-tubercular therapy and azithromycin prophylaxis.

Outcomes: Following treatment, the patient’s symptoms have resolved. At 20 months, he is thriving with normal development.

Lessons: This case highlights the importance of a thorough medical history and genetic testing in infants with recurrent or unusual infections. Early diagnosis of mendelian susceptibility to mycobacterial disease can lead to effective treatment and better outcomes.

Keywords

Mendelian susceptibility to mycobacterial disease / Interferon-gamma / Tuberculosis / Mycobacterium bovis / Case report

Conflict of interest statement

The authors declare that they have no conflict of interest.

Funding

The authors received no extramural funding for the study.

Ethical approval and the patient's consent

According to institutional policy, case reports do not require approval from the Ethics Committee. However, the Institute Ethics Committee (Subbaiah Research Centre) was informed of this report's submission. Informed consent was obtained from the patient's guardian.

Acknowledgements

We would like to thank Dr. Vinayaka G for his support.

Authors’ contributions

DRR and NK were involved in the patient's care. DRR, NK, and VSK conceptualised the work. DRR, GSM, and NRR acquired the data and drafted the manuscript. DRR, GSM, NK, and VSK made critical revisions to the manuscript. All the authors approved the manuscript for publication.

Publisher’s note

The Publisher of the Journal remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

References

[1] Varshney K, Patel H, Kamal S. Trends in tuberculosis mortality across India: Improvements despite the COVID-19 pandemic. Cureus 2023; 15(4): e38313.

[2] Gebeyehu NA, Deribessa SJ, Alexandra F, Demissie MT, Mihretu Gebre W, Gebremariam AM, et al. Mendelian susceptibility to mycobacterial diseases (MSMD) in a 13-year-old ethiopian girl with autosomal dominant interferon gamma receptor 1(IFN-γ R1) defect: A clinical diagnostic and treatment challenge. Case Rep Infect Dis 2022; 2022: 1-8.

[3] Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanık-Yüksek S, et al. A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon. Hum Mol Genet 2018; 27(22): 3919-3935.

[4] Brown-Elliott BA, Nash KA, Wallace RJ. Antimicrobial susceptibility testing, drug resistance mechanisms, and therapy of infections with nontuberculous mycobacteria. Clin Microbiol Rev 2012; 25(3): 545-582.

[5] Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol 2022; 42(7): 1508-1520.

[6] Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol 2014; 26(6): 454-470.

[7] Taur PD, Gowri V, Pandrowala AA, Iyengar VV, Chougule A, Golwala Z, et al. Clinical and molecular findings in mendelian susceptibility to mycobacterial diseases : Experience from India. Front Immunol 2021; 12: 631298.

[8] Mahdaviani SA, Fallahi M, Jamee M, Marjani M, Tabarsi P, Moniri A, et al. Effective anti-mycobacterial treatment for BCG disease in patients with mendelian susceptibility to mycobacterial disease (MSMD): A case series. Ann Clin Microbiol Antimicrob 2022; 21(1): 8.

[9] Bax HI, Freeman AF, Ding L, Hsu AP, Marciano B, Kristosturyan E, et al. Interferon alpha treatment of patients with impaired interferon gamma signaling. J Clin Immunol 2013; 33(5): 991-1001.