Living with Severe combined immunodeficiency due to CD70 deficiency
A rare inherited immune condition with a high risk of Epstein-Barr virus problems, including lymphoma, and repeated infections.
Understanding Severe combined immunodeficiency due to CD70 deficiency
People are prone to EBV-related disorders, including B-cell overgrowth disorders and Hodgkin lymphoma. They also have abnormal antibody levels and repeated infections. Signs can include repeated fever, swollen lymph nodes, an enlarged liver and spleen, and mouth sores. It begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections
- Repeated fever
- Swollen lymph nodes
- Enlarged liver and spleen
- Hodgkin lymphoma
- Low natural killer 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, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in CD70 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); Cancer specialists (oncologists); 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 CD70 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cd70 deficiency; cid due to cd70 deficiency; combined immunodeficiency due to cd70 deficiency; lymphoproliferative syndrome 3
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 Severe combined immunodeficiency due to CD70 deficiency.
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