Living with Proteasome-associated autoinflammatory syndrome 1
A rare genetic condition causing body-wide inflammation, with ring-shaped rashes, fevers, and changes in body fat.
Understanding Proteasome-associated autoinflammatory syndrome 1
It usually starts in early childhood. Symptoms can include red, ring-shaped rashes on the face and limbs, abnormal fat distribution, and immune system problems. It is also known as Nakajo-Nishimura syndrome, JMP syndrome, or CANDLE syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fever that comes and goes
- Red, ring-shaped rashes
- Loss of healthy body fat (lipodystrophy)
- Joints that can't fully straighten
- Enlarged liver and spleen
- Slow weight gain (failure to thrive)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PSMB8 gene, and sometimes this gene plus PSMA3 or PSMB4. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: praas1; proteasome-associated autoinflammatory syndrome 1 and digenic forms
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Proteasome-associated autoinflammatory syndrome 1.
Explore research for Proteasome-associated autoinflammatory syndrome 1
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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