Disease
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1, 2
Gene
MTHFD1
| Inheritance | AR |
|---|---|
| Current Treatments | hydroxocobalamin, folinic acid and betaine |
| Evidence for Treatment | expert opinion |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | T and B Lymphocyte and Natural Killer Cell Profile, complete blood count with MCV, plasma homocysteine and methylmalonic acid levels, CSF 5âmethyltetrahydrofolate level3 |
| Disease Frequency (per 100,000) | 1.724 |
| Genes Included in Disease Frequency | JAK3, IL2RG, LCK, NHEJ1, FOXN1, PNP, PRKDC, ORAI1, IL7R, PTPRC, ADA, RAG1, RAG2, DCLRE1C, CD3D, CD3E, CD247, AK2, CORO1A, CHD7, CIITA, RFXANK, RFX5, RFXAP, DOCK8, DOCK2, LIG4, MTHFD1, NBN, SLC46A1, PGM3, RMRP, STIM1, TTC7A, ZAP70, RAC2, PAX1, LAT, NUDCD3 |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=MTHFD1&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/pubmed/27707659
- 2 https://pubmed.ncbi.nlm.nih.gov/32414565/
- 3 https://pubmed.ncbi.nlm.nih.gov/30916789/
- 4 www.mdpi.com/2409-515X/3/2/15/pdf
Last Updated: March 5, 2026