| Metadata | |
|---|---|
| ID | DOID:0112001 |
| Name | immunodeficiency 50 |
| Definition | A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. https://pubmed.ncbi.nlm.nih.gov/27405666/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CID due to Moesin deficiency [EXACT] combined immunodeficiency due to Moesin deficiency [EXACT] IMD50 [EXACT] immunodeficiency 50 X linked recessive [EXACT] MSN-related combined immunodeficiency [EXACT] X-linked Moesin-associated immunodeficiency [EXACT] |
| Parent Relationships |