Living with Cryptosporidiosis-chronic cholangitis-liver disease syndrome
A rare genetic immune condition with repeated infections and, in some people, bile duct and liver disease.
Understanding Cryptosporidiosis-chronic cholangitis-liver disease syndrome
People have variable defects in B cells, T cells, and natural killer cells, which are types of immune cells. This leads to repeated lung and gut infections. Some people have severe, long-lasting, progressive inflammation of the bile ducts (cholangitis) and scarring of the liver (cirrhosis), linked to infection with a parasite called Cryptosporidium. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections
- Chronic diarrhea
- Bile duct inflammation (cholangitis)
- Liver inflammation from Cryptosporidium infection
- Repeated pneumonia and breathing infections
- Widened airways in the lungs (bronchiectasis)
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 allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in IL21R 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
- 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
It is caused by changes in the IL21R gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: combined immunodeficiency due to il21r deficiency; il21r immunodeficiency; immunodeficiency type 56
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 Cryptosporidiosis-chronic cholangitis-liver disease syndrome.
Explore research for Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Explore actively recruiting Cryptosporidiosis-chronic cholangitis-liver disease syndrome studies with HealthSpark.
Find actively recruiting studies for Cryptosporidiosis-chronic cholangitis-liver disease syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Cryptosporidiosis-chronic cholangitis-liver disease syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Cryptosporidiosis-chronic cholangitis-liver disease syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.