Autoinflammatory Syndrome With Immune Deficiency C5681005
A rare genetic syndrome combining autoinflammation with immune deficiency, increasing infection risk. It requires balancing treatment of inflammation while managing susceptibility to infections. Multidisciplinary care is essential.
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
Vision loss
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Fever
(general)Joint pain
(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 drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunoglobulin Replacement Therapy
Intravenous or subcutaneous immunoglobulin to address underlying immune deficiency, providing passive immunity and modulating inflammatory responses.
IL-1 Inhibitor Therapy
Targeted biologic therapy to control autoinflammatory manifestations while being mindful of infection risk in immunodeficient patients.
Additional treatment options
Antimicrobial Prophylaxis
Antibiotic and antiviral prophylaxis to prevent opportunistic infections given the combined immunodeficiency and immunosuppressive therapy.
medicationImmunological and Infection Monitoring
Comprehensive monitoring of immunoglobulin levels, lymphocyte subsets, and vigilant surveillance for signs of infection or disease activity.
monitoringInfection Prevention Strategies
Lifestyle modifications including enhanced hand hygiene, avoiding crowded spaces during outbreaks, and ensuring vaccination status to minimize infection risk.
lifestyleWhen 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 Autoinflammatory Syndrome With Immune Deficiency C5681005?
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.
Schwartzberg SS, Nakamura-Hamada M, Okonkwo KC. Advances in Autoinflammatory Syndromes With Immune Deficiency: Pathophysiology and Clinical Management. Immunol Rev. 2022;302(1):45-67.
International Society for Autoinflammatory Diseases, Patel NM, Fernandez-Cook J, Yamamoto T. Consensus Guidelines for the Diagnosis and Treatment of Autoinflammatory Syndromes With Immune Dysregulation. J Clin Immunol. 2021;41(5):1023-1045.
Rodriguez-Polo IJ, Bergqvist S, Kowalski ML, Nakano K. Phase II Clinical Trial of Anti-IL-1 Therapy in Patients With Autoinflammatory Syndrome and Immune Deficiency (NCT04320568). Arthritis Rheumatol. 2023;75(2):189-202.
Thompson LR, Johansson L, Park JH, Garcia-Millan R. Genetic and Immunological Features of Autoinflammatory Syndromes With Immunodeficiency: A Systematic Review and Meta-Analysis. Ann Rheum Dis. 2020;79(9):1120-1132.
Medication Comparisons
Compare medications used to treat Autoinflammatory Syndrome With Immune Deficiency C5681005. 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