Lymphoproliferative syndrome 1
Lymphoproliferative syndrome 1
Definition
A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..
Also known as ITK deficiency, ITK lymphoproliferative syndrome, LPFS1, lymphoproliferative syndrome 1, lymphoproliferative syndrome caused by mutation in ITK, lymphoproliferative syndrome type 1 — per MONDO