| Metadata | |
|---|---|
| ID | DOID:0111988 |
| Name | immunodeficiency 12 |
| Definition | A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. https://pubmed.ncbi.nlm.nih.gov/23727036/, https://pubmed.ncbi.nlm.nih.gov/24332264/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined immunodeficiency due to MALT1 deficiency [EXACT] IMD12 [EXACT] |
| Parent Relationships |