Living with Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
A rare genetic immune disease with repeated infections, bowel inflammation, and joint swelling starting in infancy.
Understanding Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
It causes repeated bacterial, viral, and fungal infections, long-lasting bowel inflammation, stomach inflammation (gastritis), and arthritis in many joints. Lab tests show low T cells, natural killer cells, and B cells. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diarrhea
- Poor weight gain (failure to thrive)
- Inflamed large intestine
- Repeated lung and breathing infections
- Abscess near the anus (perianal abscess)
- Permanent widening of the airways (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 autoimmune and inflammatory disease specialists, allergy and immune system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RIPK1 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); Digestive system specialists (gastroenterologists); 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 RIPK1 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia 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 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome.
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