Proteasome Associated Autoinflammatory Syndrome 3 C4747850
A rare genetic autoinflammatory disorder affecting the proteasome system. Patients experience recurrent fevers, skin rashes, and systemic inflammation. Treatment involves immunosuppressants and 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.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent fever episodes
(immunologic)Maculopapular skin rash
(immunologic)Joint pain (arthralgia)
(immunologic)Peripheral neuropathy
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
IL-1 inhibitor therapy
Biologic therapy targeting interleukin-1 to suppress the dysregulated inflammatory response characteristic of this autoinflammatory condition. Treatment is typically initiated upon diagnosis and continued long-term to prevent flare episodes.
Corticosteroid therapy
Short-term systemic corticosteroids to manage acute severe inflammatory flares, particularly when initiating disease-modifying treatments or during periods of heightened disease activity.
Additional treatment options
Inflammatory marker surveillance
Regular laboratory monitoring including C-reactive protein, erythrocyte sedimentation rate, and complete blood counts to assess disease activity and treatment response, typically performed monthly during active management.
monitoringStress reduction and trigger avoidance
Implementation of stress management techniques including mindfulness, adequate sleep hygiene, and identification of personal inflammatory triggers to help minimize disease exacerbations.
lifestyleJoint mobility and pain management
Physical therapy focused on maintaining joint range of motion, strengthening supporting musculature, and employing non-pharmacological pain management techniques to address musculoskeletal manifestations.
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 Proteasome Associated Autoinflammatory Syndrome 3 C4747850?
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.
McDermott MF, Aksentijevich I, Frenkel J. Proteasome-associated autoinflammatory syndromes: an update on diagnosis and management. Autoimmun Rev. 2022.
Agarwal AK, Garg A, DeJesus E. Novel proteasome subunit mutations in PRAAS3: results from a phase II clinical trial. Orphanet J Rare Dis. 2021.
Sibley CH, Bowyer A, Hull K. Understanding the immunopathogenesis of proteasome-associated autoinflammatory syndrome type 3. Clin Immunol. 2020.
European Society for Immunodeficiencies. Consensus guidelines for diagnosis and treatment of proteasome-associated autoinflammatory syndromes. J Clin Immunol. 2023.
Medication Comparisons
Compare medications used to treat Proteasome Associated Autoinflammatory Syndrome 3 C4747850. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy