Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12b Deficiency C4013948
A rare immune deficiency making people extremely vulnerable to certain bacterial infections, especially mycobacteria. Patients cannot fight infections that most people resist. Treatment involves aggressive infection management.
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
Disseminated nontuberculous mycobacterial disease
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent mycobacterial infections
(immunologic)Persistent lymphadenopathy
(immunologic)Severe Salmonella 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
IFN-γ immunotherapy
Recombinant interferon-gamma therapy to compensate for impaired IL-12/IFN-γ axis signaling. Subcutaneous administration typically 2-3 times weekly. Critical for both treatment and prevention of infections.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Antimycobacterial combination therapy
Multiple antibiotic regimen targeting mycobacterial infections, typically including macrolides, fluoroquinolones, and other agents based on susceptibility testing. Prolonged treatment duration often required.
Additional treatment options
Infection surveillance program
Regular clinical evaluation and microbiological screening for early detection of mycobacterial and other opportunistic infections. Includes periodic imaging and laboratory assessment.
monitoringInfection prevention strategies
Avoidance of exposure to environmental mycobacteria through water filtration, avoiding soil and dust exposure, and careful food/water precautions. Home and workplace modifications may be necessary.
lifestyleProphylactic antibiotics
Continuous or intermittent antimicrobial prophylaxis to prevent mycobacterial disease in high-risk patients. Selection based on local mycobacterial resistance patterns and individual factors.
medicationWhen 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 Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12b Deficiency C4013948?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy