About this condition

Combined immunodeficiency due to CTPS1 deficiency

This is information, not medical advice. A doctor or genetic counsellor is the right person for decisions.

What this means, in plain words

Combined immunodeficiency due to CTPS1 deficiency is a rare condition linked to the CTPS1 gene.

No two people with this condition are the same, and not everything on this page will apply to everyone.

You are not alone

Looking up how many people live with this…

People you can contact

Looking for patient groups…

Things you can do this week

Write down your questions and take them to your next appointment (ours are below).

Questions to bring to your doctor

Has a gene change been found, and is it the kind usually seen in combined immunodeficiency due to CTPS1 deficiency?
Is there a treatment for this condition, or a study we could join?
Should we see a genetic counsellor about what this means for the rest of the family?

Questions for our appointment

About: Combined immunodeficiency due to CTPS1 deficiency

Has a gene change been found, and is it the kind usually seen in combined immunodeficiency due to CTPS1 deficiency?
Is there a treatment for this condition, or a study we could join?
Should we see a genetic counsellor about what this means for the rest of the family?

This is information, not medical advice. Prepared with Phenotech, a rare-disease atlas. Sources: Orphanet (https://www.orpha.net/en/disease/detail/420573); ClinicalTrials.gov (https://clinicaltrials.gov/search?cond=combined%20immunodeficiency%20due%20to%20CTPS1%20deficiency&aggFilters=status:rec%20not).

Studies looking for participants

Looking for studies… Search ClinicalTrials.gov yourself ↗

The detailed view: how it works in the body, related diseases and research ideas.