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Metadata
ID DOID:0060707
Name lymphoproliferative syndrome 1
Definition A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
https://www.ncbi.nlm.nih.gov/pubmed/19425169, https://www.ncbi.nlm.nih.gov/pubmed/21109689
Xrefs

ICD10CM:D47.9

MIM:613011
Subsets

DO_rare_slim
Synonyms

LPFS1 [EXACT]
Parent Relationships

is_a autosomal recessive disease

is_a lymphoproliferative syndrome
Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal recessive inheritance

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