Metadata | |
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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/22197273, https://www.ncbi.nlm.nih.gov/pubmed/22801960 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
CD27 deficiency [EXACT] LPFS2 [EXACT] |
Parent Relationships |