Lymphoproliferative syndrome 1

MONDO:0013081

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

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