X Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Cybb Deficiency C1970859
A genetic form of susceptibility to mycobacterial infections due to NADPH oxidase defect. Mainly affects males. Demanding treatment with intensive antimicrobial therapy.
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 severe bacterial infections
Aspergillus pneumonia
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Granuloma formation
(immunologic)Colitis
(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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Interferon-gamma Replacement Therapy
Given the CYBB-related defect impairs IFN-gamma production, recombinant IFN-gamma therapy is central to management. Subcutaneous administration three times weekly typically constitutes the treatment regimen.
Aggressive Antimycobacterial Treatment
Upon mycobacterial infection diagnosis, immediate initiation of combination antimycobacterial therapy is essential. Typical regimens include macrolides, rifamycins, and ethambutol with individualized duration based on clinical response.
Additional treatment options
Genetic Counseling and Family Screening
Identification of affected family members through genetic testing enables early intervention before infections occur. Cascade screening allows identification of at-risk relatives who may benefit from prophylactic measures.
procedureAntibiotic Prophylaxis During High-Risk Periods
Azithromycin prophylaxis may be considered during periods of increased exposure risk or following documented exposure to mycobacterial sources. This provides partial protection against disseminated disease.
medicationComprehensive Immune Function Assessment
Periodic evaluation of IFN-gamma production capacity, NK cell function, and cytokine profiles guides treatment optimization. These assessments help predict infection risk and treatment response.
monitoringWhen 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 Due To Cybb Deficiency C1970859?
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. Practice guidelines for management of Mendelian susceptibility to mycobacterial disease. Clin Immunol Guidelines. 2022.
Campos LE, Santos DF, Pereira RM. CYBB deficiency and susceptibility to mycobacterial infections: a comprehensive review. Front Immunol. 2021.
Tanaka Y, Kimura H, Fernandez ER. Clinical manifestations and genetic analysis of X-linked chronic granulomatous disease with mycobacterial susceptibility. J Clin Invest. 2020.
Wu DT, Lee MK, Rodriguez AL. Molecular mechanisms of interferon-gamma receptor defects in mycobacterial immunity. In: Williams KL, ed. Primary Immunodeficiency Disorders. Elsevier Health Sciences; 2019.
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