Living with T-B+ severe combined immunodeficiency due to CD45 deficiency
A rare inherited immune condition with very few T cells, causing repeated infections, rash, and slow growth in infancy.
Understanding T-B+ severe combined immunodeficiency due to CD45 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, rash, and fever. They may have an enlarged liver and spleen, swollen lymph nodes, and low blood cell counts. Low antibody levels (hypogammaglobulinemia) have also been reported.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Repeated infections
- Slow weight gain
- Rash and fever
- Enlarged liver and spleen
- Swollen lymph nodes
- Low blood 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 PTPRC 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 PTPRC gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cd45 deficiency; t-b+ scid due to cd45 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 CD45 deficiency.
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