About this condition
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
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 and megaloblastic anemia with or without hyperhomocysteinemia is a rare condition linked to the MTHFD1 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
Questions to bring to your doctor
- Has a gene change been found, and is it the kind usually seen in combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia?
- 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?
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.