Living with Periodic fever-infantile enterocolitis-autoinflammatory syndrome
A rare genetic condition with repeated fevers, gut inflammation in infancy, and episodes of severe body-wide inflammation.
Understanding Periodic fever-infantile enterocolitis-autoinflammatory syndrome
It starts in newborns or infants with gut inflammation (enterocolitis) that gets better with age. Episodes of severe inflammation can be set off by infections, stress, or tiredness. Features include an enlarged spleen, hives-like rashes, and joint and muscle aches. GARD says untreated flares can progress to serious problems with blood clotting and organs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fevers
- Hives-like rash
- Joint pain and muscle aches
- Watery diarrhea
- Low blood cell counts
- Poor weight gain and feeding trouble
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
Specialists who may be involved include autoimmune and inflammatory disease specialists, digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in NLRC4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
Changes in the NLRC4 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: autoinflammation with infantile enterocolitis; nlrc4-related autoinflammatory syndrome with macrophage activation syndrome; nlrc4-related autoinflammatory syndrome with mas; nlrc4-related infantile enterocolitis-autoinflammatory syndrome; nlrc4-related infantile enterocolitis, autoinflammatory syndrome; nlrc4-related macrophage activation syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Periodic fever-infantile enterocolitis-autoinflammatory syndrome.
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