X-linked lymphoproliferative syndrome 1

Term ID

DOID:0060705

Synonyms

• XLP1

Definition

A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (2)

References

• GARD:7906
• ICD10CM:D82.3
• OMIM:308240

Ontology

Human Disease   ( DOID:0060705 )