Living with T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
A rare inherited immune condition with few T cells, causing repeated infections, diarrhea, and slow growth in infancy.
Understanding T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
People have very few T cells, with normal or higher numbers of B cells and natural killer (NK) cells. Infants usually have repeated infections, slow weight gain, fever, diarrhea, and skin inflammation (dermatitis). Signs begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections, often viral
- Slow weight gain
- Low T cell count
- Low lymphocyte count
- Fever
- Diarrhea
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 IL7R 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 IL7R gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: il-7r; il-7ralpha deficiency; t-b+ scid due to il-7ralpha 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 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency.
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