lymphoproliferative syndrome 1

Term ID

DOID:0060707

Synonyms

• LPFS1

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. (2)

References

• ICD10CM:D47.9
• OMIM:613011

Ontology

Human Disease   ( DOID:0060707 )