| Metadata | |
|---|---|
| ID | DOID:0060708 |
| Name | lymphoproliferative syndrome 2 |
| Definition | A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. https://www.ncbi.nlm.nih.gov/pubmed/22801960, https://www.ncbi.nlm.nih.gov/pubmed/22197273 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CD27 deficiency [EXACT] LPFS2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |