Living with TCR-alpha-beta-positive T-cell deficiency
A rare inherited immune condition with repeated infections, immune overactivity, and skin and blood problems.
Understanding TCR-alpha-beta-positive T-cell deficiency
People have repeated lung and ear infections, thrush, and diarrhea. The immune system can also be overactive, causing eczema, vitiligo, patchy hair loss, and autoimmune anemia. Slow weight gain, swollen lymph nodes, and an enlarged liver have been reported. Signs begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated respiratory and ear infections
- Chronic oral thrush
- Diarrhea
- Autoimmune problems such as hemolytic anemia
- Vitiligo and patchy hair loss
- Enlarged liver, spleen, and lymph nodes
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.
- 3Consider genetic testing
Changes in TRAC 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); Digestive system specialists (gastroenterologists); 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 TRAC gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: imd7; immunodeficiency 7; immunodeficiency 7, tcr-alpha/beta deficient; t-cell receptor alpha/beta deficiency; tcr-alpha-beta+ t-cell deficiency; tcr-alpha/beta deficiency
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 TCR-alpha-beta-positive T-cell deficiency.
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