Autosomal recessive, X-linked recessive
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Severe combined immunodeficiency disease |
• Combined T and B cell inborn immunodeficiency • Severe Combined Immune Deficiency • Severe combined immunodeficiency • severe combined immunodeficiency (disease) |
Immune disorders |
ADA adenosine deaminase IL7R interleukin 7 receptor JAK3 Janus kinase 3 RAG1 recombination activating 1 RAG2 recombination activating 2 DCLRE1C DNA cross-link repair 1C TTC7A tetratricopeptide repeat domain 7A AK2 adenylate kinase 2 PGM3 phosphoglucomutase 3 MALT1 MALT1 paracaspase PTPRC protein tyrosine phosphatase receptor type C IKBKB inhibitor of nuclear factor kappa B kinase subunit beta DOCK8 dedicator of cytokinesis 8 CD3G CD3 gamma subunit of T-cell receptor complex MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 CORO1A coronin 1A STK4 serine/threonine kinase 4 PNP purine nucleoside phosphorylase LCK LCK proto-oncogene, Src family tyrosine kinase FOXN1 forkhead box N1 CD3E CD3 epsilon subunit of T-cell receptor complex CD3D CD3 delta subunit of T-cell receptor complex |
Reports Updated as of Sep 08, 2025 |
PubMed |