Living with Combined immunodeficiency with skin granulomas
A rare inherited immune condition with repeated viral infections and small lumps (granulomas) in the skin and organs.
Understanding Combined immunodeficiency with skin granulomas
Granulomas are small lumps of immune cells found in the skin, mucous membranes or internal organs. B and T cells slowly decline in number and function, and antibody levels are low. Some people develop autoimmune diseases such as vitiligo, psoriasis or myasthenia gravis. Milder cases may start later in life.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Repeated viral infections
- Granulomas in skin, mouth or organs
- Low antibody levels
- Autoimmune problems such as vitiligo or psoriasis
- Low red or white blood cells
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Skin, hair, and nail specialists (dermatologists)
- 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 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
It is caused by changes in the RAG1 and/or RAG2 genes. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cid due to rag 1/2 deficiency; combined immunodeficiency due to rag 1/2 deficiency; combined immunodeficiency with granulomatosis
Patient organizations
- Immune Deficiency FoundationCombined immunodeficiency with skin granulomas · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency with skin granulomas.
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