Living with Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
A rare genetic immune disease with repeated sinus and lung infections and bowel inflammation starting in infancy.
Understanding Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
It begins in infancy. People have frequent episodes of hard-to-treat diarrhea with belly pain and fever, along with eczema-like rashes. Lab tests show low IgG subclasses, weaker immune cell responses, and fewer natural killer cells.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Repeated sinus and lung infections
- Hard-to-treat diarrhea
- Abdominal pain
- Fever
- Eczema-like rash
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, digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Crohn’s & Colitis Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Crohn’s & Colitis Foundation, 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 Crohn’s & Colitis Foundation and other patient organizations
- 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
GARD says the condition comes from deficits in parts of the immune system. It doesn't list a specific gene or inheritance pattern.
Also known as: inflammatory bowel disease, recurrent sinopulmonary infection syndrome; nfat5 (nuclear factor of activated t cells 5) haploinsufficiency; nfat5 haploinsufficiency
Patient organizations
- Crohn’s & Colitis FoundationInflammatory bowel disease-recurrent sinopulmonary infections syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Inflammatory bowel disease-recurrent sinopulmonary infections syndrome.
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