Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies C5676918
A rare genetic syndrome that combines immunodeficiency with autoinflammation and distinctive facial features. Management involves treating infections, controlling inflammation, and supportive care.
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
Severe headache
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent fever
(immunologic)Dysmorphic facial features
(immunologic)Uveitis
(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
Anti-inflammatory and immunosuppressive therapy
Targeted anti-inflammatory medications to manage autoinflammatory manifestations and reduce tissue damage from chronic inflammation.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunoglobulin replacement therapy
IVIG supplementation addresses the immunodeficiency component while providing immunomodulatory benefits for autoinflammatory symptoms.
Additional treatment options
Genetic counseling and family support services
Comprehensive genetic counseling for patients and families regarding inheritance patterns, diagnosis implications, and family planning options.
psychologicalNutritional support for dysmorphic features
Specialized dietary interventions addressing feeding difficulties common with dysmorphic facies, including texture modifications and nutritional supplementation.
dietaryDevelopmental and physical therapy interventions
Therapeutic interventions addressing motor delays, joint limitations, and physical challenges associated with dysmorphic features and autoinflammation.
physical_therapyWhen 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 Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies C5676918?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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 20, 2026. · Read our editorial policy