Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To A Partial Deficiency C5679891
A genetic condition that reduces the body's ability to fight specific infections, particularly mycobacterial infections. It is inherited and requires careful infection prevention and management.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Disseminated BCG infection (BCG-osis)
Generalized symptoms
(immunologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent mycobacterial infections
(immunologic)Severe viral infection
(immunologic)Osteomyelitis due to mycobacteria
(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 prophylaxis
Preventive antimicrobial therapy targeting atypical mycobacteria, typically using agents such as azithromycin or rifabutin. Prophylaxis significantly reduces infection risk in affected individuals.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Aggressive treatment of mycobacterial infections
Prompt initiation of multi-drug regimens for active mycobacterial disease, often requiring prolonged combination therapy with close monitoring for efficacy and toxicity.
Additional treatment options
Regular infection surveillance
Frequent clinical evaluations and imaging studies to detect early signs of mycobacterial infection, given the reduced immune response in these patients.
monitoringEnvironmental exposure reduction
Avoidance of known sources of atypical mycobacteria including certain water sources, soil, and contaminated medical equipment. Home water filtration may be recommended.
lifestyleVitamin D supplementation
Supplemental vitamin D to support immune function, as vitamin D plays a role in macrophage activation and antimicrobial peptide production against mycobacteria.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To A Partial Deficiency C5679891?
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.
Bousfiha A, Jeddane L, Picard C, et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020.
Casanova JL, Abel L. Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol. 2018.
Sologuren I, Martinez-Saavedra MT, Sole-Violan J, et al. Partial Defects of Interferon-gamma Pathway and Clinical Outcomes in Patients with Mycobacterial Susceptibility. Clin Infect Dis. 2021.
Rosain J, Kong XF, Martinez-Barricarte R, et al. Mendelian susceptibility to mycobacterial disease: Recent discoveries and clinical advances. Clin Immunol. 2022.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy