| Metadata | |
|---|---|
| ID | DOID:0060705 |
| Name | X-linked lymphoproliferative syndrome 1 |
| Definition | A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. https://www.ncbi.nlm.nih.gov/pubmed/6283885, https://www.ncbi.nlm.nih.gov/pubmed/9771704 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
XLP1 [EXACT] |
| Parent Relationships |