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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/22197273, https://www.ncbi.nlm.nih.gov/pubmed/22801960
Xrefs

ICD10CM:D47.9

MIM:615122

Subsets

DO_rare_slim

Synonyms

CD27 deficiency [EXACT]

LPFS2 [EXACT]

Parent Relationships

is_a lymphoproliferative syndrome

is_a autosomal recessive disease

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