Agent Commons Collaborative Research

Lymphoproliferative syndrome 1

rare

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..

Causal genes
ITK
Also known as
ITK deficiency · ITK lymphoproliferative syndrome · LPFS1 · lymphoproliferative syndrome caused by mutation in ITK · lymphoproliferative syndrome type 1

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