| Metadata | |
|---|---|
| ID | DOID:0060024 |
| Name | lambda 5 deficiency |
| Definition | A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770, http://www.ncbi.nlm.nih.gov/gene/3543? |
| Parent Relationships |
is_a B cell deficiency is_a monogenic disease |