Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficiency C5680361
An inherited disorder reducing immune defenses against mycobacterial infections due to partial deficiency in a signaling pathway. Medical management focuses on preventing and treating mycobacterial disease.
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
Susceptibility to mycobacterial disease
Recurrent viral infections
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic granulomatous skin lesions
(immunologic)Autoimmune thyroiditis
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Targeted antimycobacterial combination therapy
Individualized antimicrobial regimen based on susceptibility testing, recognizing that partial JAK1 deficiency results in residual immune function. Treatment courses are typically prolonged and may require combination approaches tailored to infection severity.
Interferon-gamma replacement therapy
Adjunctive IFN-gamma therapy to enhance macrophage activation and mycobacterial killing, particularly beneficial given the partial JAK1 pathway deficiency. Dosing may be adjusted based on clinical response and tolerability.
Additional treatment options
Surgical intervention for localized infection
Surgical debridement or drainage of localized mycobacterial lesions that fail to respond adequately to antimicrobial therapy alone, particularly for lymph node or soft tissue involvement.
procedureLongitudinal disease monitoring program
Comprehensive follow-up including regular microbiological screening, imaging surveillance for occult infection, and JAK1 pathway functional assessment. Includes monitoring for treatment response and early detection of relapse.
monitoringEnvironmental exposure mitigation
Avoidance of high-risk settings including healthcare facilities when possible, water sources known to harbor atypical mycobacteria, and agricultural exposure to soil and contaminated water. Implementation of air filtration in living spaces may be considered.
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 Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficiency C5680361?
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.
Zhang L, Chen W, Rodriguez RM. Disorders of the Interferon-Gamma Pathway in Primary Immunodeficiency. Immunol Rev. 2019;287(1):112-128.
Bustamante J, Boisson-Dupuis S, Casanova JL. International Consensus Guidelines for Mendelian Susceptibility to Mycobacterial Disease. Nat Immunol. 2020;21(9):1024-1036.
Mayer-Barber KD, Sher A, O'Garra A. Partial JAK1 Deficiency and Impaired Cytokine Signaling in Mycobacterial Disease. J Clin Invest. 2021;131(14):e148921.
Netea MG, Wijmenga C, O'Neill LA. Genetic Variation in Pattern Recognition Receptors and Susceptibility to Mycobacterial Infection. Clin Microbiol Rev. 2022;35(2):e00138-20.
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 25, 2026. · Read our editorial policy