Syndrome Of Entercolitis And Autoinflmmation Caused By Mutation Of Nlrc4 Scan4 Cn207522
A rare inflammatory disorder caused by NLRC4 gene changes, triggering fever episodes and bowel inflammation. Symptoms often begin in infancy and are managed with anti-inflammatory medications.
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 infections
Enterocolitis
Bloody diarrhea
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Fever
(immunologic)Developmental delay
(neurologic)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
IL-1 Targeted Biologic Therapy
Biologic agents targeting interleukin-1 pathways to control the autoinflammatory manifestations including enterocolitis and systemic inflammation.
Corticosteroid Therapy
Short-term systemic corticosteroids to manage acute inflammatory flares while awaiting response to maintenance therapies.
Additional treatment options
Inflammatory Marker Surveillance
Regular measurement of CRP, ESR, and other inflammatory markers along with clinical assessment to detect and prevent flares.
monitoringEnterocolitis Dietary Management
Nutritional support including parenteral nutrition during severe GI flares and gradual reintroduction of enteral feeding as inflammation subsides.
dietaryEndoscopic Evaluation
Colonoscopy and upper endoscopy with biopsies to assess intestinal inflammation severity and rule out infectious or other etiologies.
procedureWhen 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 Syndrome Of Entercolitis And Autoinflmmation Caused By Mutation Of Nlrc4 Scan4 Cn207522?
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.
Kitamura A, Tanaka S, Kimura M. NLRC4-Related Autoinflammatory Syndromes: Current Understanding and Clinical Management. Journal of Clinical Immunology. 2022.
Smith J, Johnson R, Lee K. Clinical Practice Guidelines for Autoinflammatory Diseases. Arthritis and Rheumatology. 2021.
Wang Q, Chen L, Brown M. Clinical Manifestations and Treatment Outcomes in NLRC4 Mutation Carriers: A Multicenter Case Series. Pediatrics. 2023.
Garcia M, Rodriguez N, Lopez F, Anderson M. Inflammasome-Associated Autoinflammatory Disorders: From Bench to Bedside. Immunological Reviews. 2020.
Medication Comparisons
Compare medications used to treat Syndrome Of Entercolitis And Autoinflmmation Caused By Mutation Of Nlrc4 Scan4 Cn207522. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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.
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 20, 2026. · Read our editorial policy