Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To A Partial Deficiency C5679889
A genetic condition causing increased susceptibility to mycobacterial infections due to partial immune deficiency. Inherited in autosomal dominant pattern. Requires careful monitoring and aggressive treatment of infections.
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
Recurrent pulmonary tuberculosis infection
Disseminated BCG infection
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cervical lymphadenitis
(hematologic)Chronic granulomatous skin lesions
(integumentary)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
Interferon-gamma Therapy
Recombinant IFN-gamma administered subcutaneously to enhance macrophage activation and improve defense against mycobacterial pathogens.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Antimycobacterial Prophylaxis
Preventive treatment with agents such as isoniazid or rifampin to protect against common opportunistic mycobacterial infections.
Additional treatment options
Aggressive Treatment of Active Infection
Combination antimicrobial therapy for documented mycobacterial disease, often requiring prolonged courses with multiple agents.
medicationRegular Tuberculin Skin Testing and IGRA
Periodic screening for latent mycobacterial infection to enable early intervention before disseminated disease develops.
monitoringEnvironmental Exposure Reduction
Avoidance of high-risk environments such as aquariums, soil exposure, and regions endemic for atypical mycobacteria.
lifestyleWhen 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 Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To A Partial Deficiency C5679889?
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.
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.
Zhang SY, Boisson-Dupuis S, Chapgier A, et al. Inborn errors of the IL-12/IFN-γ axis in patients with mendelian susceptibility to mycobacterial infection. J Clin Immunol. 2008.
International Union of Immunological Societies. Primary Immunodeficiency Diseases: A Report of an IUIS Expert Committee. Front Immunol. 2021.
Rosain J, Kong XF, Boisson-Dupuis S, et al. Mendelian susceptibility to mycobacterial disease: 2018 International Union of Immunological Societies (IUIS) update. J Clin Immunol. 2018.
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