Living with Combined immunodeficiency due to CTPS1 deficiency
A rare inherited immune condition that causes severe, repeated viral infections and sinus and lung infections.
Understanding Combined immunodeficiency due to CTPS1 deficiency
T and B cells have trouble growing in number when activated. This leads to early, severe or repeated viral infections, including Epstein-Barr virus and varicella zoster (chickenpox) virus, and repeated sinus and lung infections. It starts between birth and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated viral infections
- Severe chickenpox (varicella zoster) infection
- Respiratory tract infections
- Fewer memory B cells
- Unusual immune cell ratio (inverted CD4:CD8)
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 CTPS1 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
Changes in the CTPS1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: ctps1-related combined immunodeficiency; immunodeficiency 24; immunodeficiency type 24; scid due to ctps1 deficiency; severe combined immunodeficiency due to ctps1 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 Combined immunodeficiency due to CTPS1 deficiency.
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