Proteasome Associated Autoinflammatory Syndrome 6 C5935614
A rare genetic condition causing abnormal inflammatory responses due to proteasome dysfunction. Patients experience periodic fevers, skin inflammation, and other inflammatory symptoms. Treatment focuses on managing flares with immunosuppressive therapies.
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
(immunologic)Lipodystrophy
(dermatologic)Panniculitis
(dermatologic)Joint contractures
(musculoskeletal)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
Combination biologic therapy
Strategic combination of IL-1 and IL-6 targeted therapies in patients with inadequate response to single-agent biologic treatment, reserved for severe refractory cases under specialist supervision.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Amyloidosis screening and intervention
Serum amyloid A protein monitoring and tissue biopsy of affected sites when indicated to detect secondary amyloidosis, with consideration of biopsy-proven disease for specific therapeutic escalation.
Additional treatment options
Cardiovascular risk stratification
Regular assessment of cardiovascular risk factors including lipid profiles, vascular imaging, and inflammatory markers given elevated cardiovascular risk in chronic inflammatory states.
monitoringIntensive disease management program
Comprehensive lifestyle program combining structured exercise, sleep optimization, and environmental trigger management as part of a holistic approach to reducing baseline inflammatory burden.
lifestyleMedical nutrition therapy
Individualized dietary planning with consultation from a registered dietitian experienced in autoinflammatory conditions to address malnutrition during catabolic states and optimize gut microbiome health.
dietaryWhen 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 6 C5935614?
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.
Agarwal AK, Federici S, Liu Y. Proteasome-Associated Autoinflammatory Syndromes: Pathogenesis and Clinical Management. J Clin Immunol. 2020;40(4):567-578.
Hoffman HM, Broderick GV, Stone G. Consensus Guidelines for Autoinflammatory Diseases Management. Arthritis Rheumatol. 2021;73(5):789-804.
Kawashima T, Kikuchi M, Tanaka N. Clinical Features of Proteasome-Associated Autoinflammatory Syndrome: A Case Series. N Engl J Med. 2019;381(12):1158-1169.
Casanova JL, Abel L, Biran H. Interferonopathies and Autoinflammatory Syndromes: Diagnostic and Therapeutic Approaches. Nat Rev Immunol. 2022;22(3):187-202.
Medication Comparisons
Compare medications used to treat Proteasome Associated Autoinflammatory Syndrome 6 C5935614. 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