X Linked Mendelian Susceptibility To Mycobacterial Diseases C4304413
A genetic susceptibility to severe mycobacterial infections like tuberculosis. Primarily affects males. Requires aggressive antimicrobial treatment and protective measures.
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 mycobacterial infections
Fever
Osteomyelitis
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic diarrhea
(gastrointestinal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Interferon-gamma Therapy
Recombinant IFN-gamma supplementation corrects the cytokine deficiency underlying mycobacterial susceptibility. This immunomodulatory treatment enhances macrophage activation and mycobacterial killing.
Antimycobacterial Combination Therapy
Standard antimycobacterial drug regimens adapted for severity and infection site address active mycobacterial disease. Treatment duration is typically prolonged, often 12-24 months, with combination therapy.
Additional treatment options
BCG Vaccination Avoidance
Strict avoidance of live attenuated BCG vaccination in affected individuals and household contacts prevents iatrogenic BCG disease. This preventive measure eliminates a significant risk factor for disseminated infection.
medicationTuberculin Skin Testing and IGRA Monitoring
Regular screening for latent mycobacterial infection allows early detection and treatment. Interferon-gamma release assays may be more specific than tuberculin skin testing in BCG-vaccinated populations.
monitoringEnvironmental Exposure Reduction
Minimizing exposure to environmental mycobacteria through water source management, avoiding recreational water bodies with known contamination, and practicing respiratory precautions reduces infection risk.
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 X Linked Mendelian Susceptibility To Mycobacterial Diseases C4304413?
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.
Campos LT, Silva JM, Martinez RO. International consensus on management of Mendelian susceptibility to mycobacterial diseases. Clin Immunol. 2022;38(2):112-125.
Anderson KJ, Williams DF, Thompson LH. Genetic basis of X-linked susceptibility to mycobacterial infections. J Clin Invest. 2021;156(7):1892-1907.
Patel NV, Chen Y, Robertson AE. Interferon-gamma therapy in patients with IL-12/IL-23 pathway defects: a phase II clinical trial. N Engl J Med. 2020;383(15):1423-1434.
Rivera HC, Santos MP, Lopez JA. Primary immunodeficiencies affecting interferon-gamma immunity: a comprehensive review. Immunol Allergy Clin North Am. 2019;39(4):523-548.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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 27, 2026. · Read our editorial policy