Living with Combined immunodeficiency due to partial RAG1 deficiency
A rare inherited immune condition with severe, ongoing CMV infection and autoimmune low blood counts in babies and children.
Understanding Combined immunodeficiency due to partial RAG1 deficiency
It leads to severe and lasting cytomegalovirus (CMV) infection and autoimmune cytopenia, where the body attacks its own blood cells. It can be diagnosed in babies and children and affects males and females.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe, lasting CMV infection
- Autoimmune anemia
- Autoimmune low neutrophil count
- Enlarged spleen
- Lung inflammation (interstitial pneumonitis)
- Low T and B cell counts
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 RAG1 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 RAG1 gene on chromosome 11. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cid due to partial rag1 deficiency; cid with expansion of gamma delta t cells; combined immunodeficiency with expansion of gamma delta t cells
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 Combined immunodeficiency due to partial RAG1 deficiency.
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