Overview
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome is a very rare inherited disease caused by changes (mutations) in the CEBPE gene. This gene gives instructions for making a protein called C/EBP epsilon, which is essential for the normal development and function of neutrophils — the white blood cells that are your body's first line of defense against bacterial and fungal infections. When this protein does not work properly, neutrophils fail to mature correctly and cannot fight infections effectively. At the same time, the immune system becomes overactive in other ways, causing episodes of inflammation even without an obvious infection. People with this condition typically experience a combination of three main problems: frequent and severe infections (immunodeficiency), episodes of unexplained fever and inflammation (autoinflammation), and poorly functioning neutrophils (neutrophil dysfunction). Common symptoms include recurrent skin infections, lung infections, swollen lymph nodes, and periodic fevers. Some patients also develop inflammatory skin rashes or bowel problems. This condition is sometimes referred to by the abbreviation AAINS. It overlaps in some ways with Specific Granule Deficiency (SGD), which is also caused by CEBPE mutations. Treatment focuses on preventing and treating infections, and managing inflammation. Stem cell transplant has been used in severe cases and may offer the best chance of long-term improvement.
Also known as:
Key symptoms:
Frequent and severe bacterial infectionsRecurring skin infections, abscesses, or boilsRepeated lung infections or pneumoniaPeriodic unexplained feversSwollen lymph nodesPoor wound healingInflammatory skin rashesBowel inflammation or diarrheaAbnormal or absent granules in neutrophils seen on blood testsElevated inflammatory markers in the blood during flares
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
8 eventsThe Children's Hospital of Zhejiang University School of Medicine — PHASE1
University Hospital, Antwerp — PHASE4
Assiut University — PHASE4
University of Chicago — PHASE1, PHASE2
National Institute of Allergy and Infectious Diseases (NIAID) — PHASE2
National Cancer Institute (NCI) — PHASE1, PHASE2
Université de Sherbrooke — PHASE2
Bristol-Myers Squibb — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome.
Community
No community posts yet. Be the first to share your experience with CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome.
Start the conversation →Latest news about CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Disease timeline:
New recruiting trial: Mycophenolate-Based Therapy for Kidney Transplant Recipients Without HLA-DQ Mismatch
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: A Study to Evaluate the Benefits and Risks of Conversion of Existing Adolescent Kidney Transplant Recipients Aged 12 to <18 Years to a Belatacept-based Immunosuppressive Regimen as Compared to Continuation of a Calcineurin Inhibitor-based Regimen, and Their Adherence to Immunosuppressive Medications
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: The Lowest Effective Dose of Post-Transplantation Cyclophosphamide in Combination With Sirolimus and Mycophenolate Mofetil as Graft-Versus-Host Disease Prophylaxis After Reduced Intensity Conditioning and Peripheral Blood Stem Cell Transplantation
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: Safety, Tolerability, and Efficacy of Immunomodulation With A Monoclonal Antibody Against CD40L in Combination With Transplanted Islet Cells in Adults With Brittle Type 1 Diabetes Mellitus (T1D)
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: Blinatumomab for CNI-Resistant/Intolerant SRNS in Children
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: Assessment of Biomarker-Guided CNI Substitution In Kidney Transplantation
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: Early Use of Long-acting Tacrolimus in Lung Transplant Recipients
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
New recruiting trial: A Study to Evaluate Efficacy, Safety, and Tolerability of Povetacicept in Participants With Primary Membranous Nephropathy (pMN)
A new clinical trial is recruiting patients for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What preventive medications should my child take every day, and what are the possible side effects?,What signs of infection should prompt me to go to the emergency room immediately?,Is my child a candidate for stem cell transplantation, and what would that process involve?,Are there any vaccines that are not safe for my child because of this condition?,Should other family members be tested for the CEBPE gene mutation?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of my child's care team, and how often should we see each one?
Common questions about CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
What is CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome?
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome is a very rare inherited disease caused by changes (mutations) in the CEBPE gene. This gene gives instructions for making a protein called C/EBP epsilon, which is essential for the normal development and function of neutrophils — the white blood cells that are your body's first line of defense against bacterial and fungal infections. When this protein does not work properly, neutrophils fail to mature correctly and cannot fight infections effectively. At the same time, the immune system becomes overactive in oth
How is CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome inherited?
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome typically begin?
Typical onset of CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome?
2 specialists and care centers treating CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.