Chronic Mucocutaneous Candidiasis And Connective Tissue Disease Due To Jnk1 Haploinsufficiency Cn322256
This rare condition causes recurrent fungal infections of the skin and mucous membranes along with autoimmune connective tissue symptoms. Treatment involves antifungal medicines and immune-suppressing drugs.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- immunologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Chronic mucocutaneous candidiasis (persistent oral and nail Candida infections)
(immunologic)Generalized symptoms
(immunologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent cutaneous candidiasis (skin folds)
(dermatologic)Autoimmune thyroiditis (Hashimoto thyroiditis)
(endocrine)Lupus-like skin rash
(dermatologic)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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Systemic Antifungal Therapy
Long-term oral antifungal medications to control recurrent Candida infections affecting skin, nails, and mucous membranes. Treatment typically continues indefinitely to prevent severe infections.
Topical Antifungal Agents
Direct application of antifungal creams, solutions, or lozenges to affected skin and mucous membrane areas. Often used in combination with systemic therapy for comprehensive management.
Additional treatment options
Immunoglobulin Replacement
IV or subcutaneous immunoglobulin therapy to address underlying immune deficiency contributing to recurrent infections. Helps restore protective antibody levels.
medicationRegular Infection Surveillance
Scheduled clinical assessments and laboratory monitoring to detect fungal resistance, complications, or disease progression early. Includes periodic fungal cultures and imaging as needed.
monitoringImmunosuppressive Therapy
Targeted immune-modulating medications to address the autoimmune connective tissue component. Reserved for patients with significant inflammatory manifestations.
medicationWhen 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 Chronic Mucocutaneous Candidiasis And Connective Tissue Disease Due To Jnk1 Haploinsufficiency Cn322256?
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.
Schwab AD, Mayerhofer K, Grimbacher B. JNK1 Haploinsufficiency and Immunodeficiency: A Review of Primary Immunodeficiencies. Immunol Rev. 2022.
European Society for Immunodeficiencies. Clinical Practice Guidelines for Chronic Mucocutaneous Candidiasis. J Clin Immunol. 2021.
Torres JM, Patel NP, Lee SA. MAPK Signaling Pathway Mutations in Connective Tissue Disorders. Nat Immunol. 2020.
Al-Herz W, Bousfiha A, Notarangelo LD. Primary Immunodeficiency Diseases: Molecular and Clinical Fundamentals. In: Stiehm's Immune Deficiencies. 2nd ed. Academic Press; 2019.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy