Overview
Combined immunodeficiency with multiple intestinal atresia (CID-MIA) is an extremely rare and serious condition that affects both the immune system and the digestive tract. Babies born with this disease have a severely weakened immune system, meaning their body cannot properly fight infections. At the same time, they are born with multiple blockages (called atresias) in their intestines, where sections of the bowel are closed off or missing. These blockages prevent food from passing through normally and require surgical intervention shortly after birth. Because the immune system is so severely compromised, affected infants are highly vulnerable to life-threatening infections from bacteria, viruses, and fungi. The intestinal problems cause difficulty feeding, vomiting, and a swollen belly soon after birth. Even with surgery to repair the intestinal blockages, the underlying immune deficiency remains a critical problem. Some babies also develop skin abnormalities. The treatment landscape for CID-MIA is very challenging. Surgical repair of the intestinal atresias is necessary but does not address the immune deficiency. Bone marrow transplantation (also called hematopoietic stem cell transplantation) has been attempted to restore immune function, but outcomes have historically been poor. Supportive care includes intravenous nutrition (called total parenteral nutrition or TPN), infection prevention, and immunoglobulin replacement therapy. Unfortunately, this condition carries a very high mortality rate in infancy, and there is currently no reliable cure for most patients.
Also known as:
Key symptoms:
Severe immune deficiency with frequent and serious infectionsMultiple blockages in the intestines present at birthSwollen or distended belly in the newborn periodVomiting of green bile-stained fluidInability to pass stool after birthFailure to gain weight and growChronic diarrheaSkin rashes or abnormal skin appearanceRecurrent lung infectionsThrush or persistent fungal infections in the mouthLow levels of infection-fighting cells in the bloodNeed for intravenous feedingSepsis or bloodstream infections
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableBiktarvy
as a complete regimen for the treatment of human immunodeficiency virus type 1 (HIV-1) infection in adults and pediatric patients weighing at least 14 kg with an antiretroviral treatment history and n…
as a complete regimen for the treatment of human immunodeficiency virus type 1 (HIV-1) infection in adults and pediatric patients weighing at least 14 kg with an antiretroviral treatment history and not virologically suppressed, with no known or suspected substitutions associated with resistance to the integrase strand inhibitor class, emtricitabine, or tenofovir
Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined immunodeficiency-multiple intestinal atresia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency-multiple intestinal atresia.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Combined immunodeficiency-multiple intestinal atresia.
Community
No community posts yet. Be the first to share your experience with Combined immunodeficiency-multiple intestinal atresia.
Start the conversation →Latest news about Combined immunodeficiency-multiple intestinal atresia
No recent news articles for Combined immunodeficiency-multiple intestinal atresia.
Follow this condition to be notified when news becomes available.
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.How severe is my child's immune deficiency, and what specific infections should we watch for?,How much of the intestine is affected, and will my child ever be able to eat by mouth?,Is bone marrow transplantation an option for my child, and what are the realistic chances of success?,What genetic testing has been done, and should other family members be tested?,What are the long-term risks of total parenteral nutrition, and how can we minimize them?,Are there any clinical trials or experimental treatments available for this condition?,What support services are available for our family, including palliative care if needed?
Common questions about Combined immunodeficiency-multiple intestinal atresia
What is Combined immunodeficiency-multiple intestinal atresia?
Combined immunodeficiency with multiple intestinal atresia (CID-MIA) is an extremely rare and serious condition that affects both the immune system and the digestive tract. Babies born with this disease have a severely weakened immune system, meaning their body cannot properly fight infections. At the same time, they are born with multiple blockages (called atresias) in their intestines, where sections of the bowel are closed off or missing. These blockages prevent food from passing through normally and require surgical intervention shortly after birth. Because the immune system is so severel
How is Combined immunodeficiency-multiple intestinal atresia inherited?
Combined immunodeficiency-multiple intestinal atresia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency-multiple intestinal atresia typically begin?
Typical onset of Combined immunodeficiency-multiple intestinal atresia is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Combined immunodeficiency-multiple intestinal atresia?
1 patient support program are currently tracked on UniteRare for Combined immunodeficiency-multiple intestinal atresia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.