A20 Haploinsufficiency C5849639
A genetic condition affecting immune regulation due to mutations in the TNFAIP3 gene. Can cause autoinflammatory features including fever, skin rashes, and joint pain. Treatment typically involves anti-inflammatory medications and immune monitoring.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent fever
Episodes of high fever lasting from days to weeks, often occurring spontaneously or triggered by minor infections.
Seek immediate medical attention if fever exceeds 104°F (40°C), persists longer than 48 hours, or is accompanied by severe headache, confusion, or stiff neck.
Gastrointestinal inflammation
Inflammation of the digestive tract causing abdominal pain, diarrhea, nausea, and sometimes bloody stools.
Seek immediate care for severe abdominal pain, persistent bloody diarrhea, signs of dehydration, or inability to keep food down.
Neurologic inflammation
Central nervous system involvement causing headaches, seizures, cognitive changes, or motor difficulties.
Seek emergency care for sudden severe headache, seizures, vision changes, weakness, or confusion.
Oral ulcers
(constitutional)Painful sores appearing on the lips, tongue, or inside the mouth, often recurring and may interfere with eating and drinking.
Frequency: 70-85% of patients
Inflammatory skin rash
(dermatologic)Red, scaly patches resembling psoriasis or eczema that may appear on the scalp, elbows, knees, or trunk.
Frequency: 60-80% of patients
Joint pain and swelling
(musculoskeletal)Arthritis-like symptoms affecting knees, ankles, wrists, and fingers, often with morning stiffness and reduced range of motion.
Frequency: 40-55% of patients
Eye inflammation
(ocular)Uveitis or conjunctivitis causing redness, pain, light sensitivity, and blurred vision.
Frequency: 15-25% of patients
Recurrent infections
(immunologic)Increased susceptibility to bacterial, viral, and fungal infections affecting the respiratory tract, skin, and other areas.
Frequency: 30-50% of patients
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
Autoimmune and Inflammatory Surveillance
Regular monitoring of autoimmune manifestations including periodic lab work, inflammatory marker assessment, and organ-specific evaluations.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Infection Prevention Strategies
Lifestyle modifications emphasizing infection prevention including hygiene practices, avoiding sick contacts, and prompt treatment of infections.
Additional treatment options
Immunomodulatory Therapy Management
Systematic approach to managing autoimmune and inflammatory conditions with appropriate medications under specialist supervision.
medicationChronic Condition Psychological Support
Counseling and mental health support addressing the emotional impact of living with a chronic genetic condition and potential recurrent medical issues.
psychologicalSpecialty Evaluations as Indicated
Coordinated specialist evaluations including rheumatology, dermatology, gastroenterology, and hematology based on individual manifestations.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is A20 Haploinsufficiency C5849639?
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.
Aeschlimann FA, Laxer RM. A20 haploinsufficiency (HA20): more than 7 years of clinical and immunological insights. Pediatr Rheumatol Online J. 2023.
Kourtis S, Gezsi A, Kopsidas K, et al. A20 haploinsufficiency: a systematic review. J Clin Immunol. 2024.
European Society for Immunodeficiencies (ESID). ESID Guidelines for Management of Autoinflammatory Diseases. 2022.
American College of Rheumatology (ACR). Classification Criteria for Autoinflammatory Diseases. Arthritis Rheumatol. 2021.
Zhou Q, Wang H, Schwartz DM, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset systemic autoinflammatory disease. Nat Genet. 2016;48(1):67-73.
Shigemura T, Kaneko S, Kobayashi N, et al. Efficacy of anti-TNF therapy in A20 haploinsufficiency: a multicenter retrospective study. J Allergy Clin Immunol Pract. 2022;10(8):2124-2131.
Kaser A. A20 haploinsufficiency: a monogenic form of TNF-alpha-mediated inflammation. Nat Rev Immunol. 2020;20(8):477-479.
International Consortium for Autoinflammatory Disorders. Consensus recommendations for the diagnosis and management of A20 haploinsufficiency. Ann Rheum Dis. 2023;82(4):582-594.
Medication Comparisons
Compare medications used to treat A20 Haploinsufficiency C5849639. 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