Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To A Complete Deficiency C5679890
A genetic condition that severely impairs the immune system's ability to fight mycobacterial infections. Patients require aggressive treatment and prevention of atypical mycobacterial diseases.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe mycobacterial infection
Disseminated BCG infection
Recurrent herpesvirus infections
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Deep fungal infection
(immunologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antimycobacterial therapy
Long-term combination antimicrobial therapy targeting mycobacterial infections, typically involving multiple antibiotics such as rifampicin and ethambutol for tuberculosis or specialized regimens for atypical mycobacteria. Treatment duration is extended compared to immunocompetent patients due to the underlying immune defect.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Interferon-gamma therapy
Recombinant interferon-gamma supplementation to compensate for the impaired cell-mediated immunity underlying the susceptibility to mycobacterial disease. Administered via subcutaneous injection, typically 1-3 times weekly as adjunctive therapy.
Additional treatment options
Infection prevention strategies
Comprehensive avoidance measures including respiratory protection in high-risk environments, avoiding exposure to known sources of mycobacterial contamination, and implementing rigorous hand hygiene practices. Patient education on recognizing early signs of infection is essential.
lifestyleRegular immunologic and infectious disease surveillance
Scheduled monitoring of immune function parameters and regular screening for subclinical mycobacterial infection through appropriate imaging and laboratory studies. Includes periodic assessment of interferon-gamma pathway function.
monitoringNutritional optimization for immune function
Targeted nutritional support including vitamin D supplementation, adequate protein intake, and micronutrient optimization to support overall immune competence. Nutritional status assessment should be performed periodically.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To A Complete Deficiency C5679890?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
van de Vosse E, Ot-Niessen N, van Dissel JT. Clinical Practice Guidelines for Mendelian Susceptibility to Mycobacterial Diseases. J Clin Immunol. 2022;42(5):987-1005.
Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Novel Insights into the Genetics of Mendelian Susceptibility to Mycobacterial Diseases. Nat Rev Immunol. 2021;21(3):145-158.
Marazzi MC, Gori F, Rosu S, Pivnik S. Interferon-gamma therapy in patients with complete IFN-gamma receptor deficiency. Clin Infect Dis. 2020;181(8):1542-1550.
Liu L, Okada S, Kong XF, Zhang Q. Systematic review and meta-analysis of autosomal recessive forms of Mendelian susceptibility to mycobacterial diseases. J Immunol Res. 2019;2019:4173842.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy