Living with Combined immunodeficiency due to CD3gamma deficiency
A rare inherited immune condition with low T cells, ranging from no symptoms to repeated infections in infancy.
Understanding Combined immunodeficiency due to CD3gamma deficiency
People have fewer T cells, a type of immune cell, and these cells do not respond as well as they should. Other immune cells and antibodies are usually normal. Symptoms range from none to severe repeated infections starting in infancy, with some people having autoimmune disease or bowel problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated respiratory infections
- Repeated ear infections
- Chronic diarrhea
- Slow weight gain (failure to thrive)
- Ongoing oral thrush (yeast infection)
- Autoimmune anemia (autoimmune hemolytic anemia)
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 CD3G 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
Changes in the CD3G gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cd3 deficiency; cd3-gamma deficiency; cd3gamma deficiency; imd17; immunodeficiency 17; immunodeficiency 17, cd3 gamma deficient
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 CD3gamma deficiency.
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