Living with CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
A rare genetic condition with repeated fevers, belly pain, and infections linked to the immune system.
Understanding CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Neutrophils are white blood cells that fight infection. People have repeated attacks of belly pain, high fever, and body-wide inflammation. Attacks last four to five days and come every few weeks. They may come with abscesses and mouth ulcers. People also have mild bleeding tendency and frequent skin and mucosal infections. It starts anywhere from the newborn years to the teen years.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Attacks of belly pain
- High fever
- Inflammation throughout the body
- Abscesses (nail beds, tongue, and elsewhere)
- Mouth ulcers
- Frequent skin and mucosal infections
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, allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CEBPE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency 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 CEBPE gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cain; cain (cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome; ccaat enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome; cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · 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 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome.
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