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lymphoproliferative syndrome 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description 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..
Uniprot Description A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma.
Mondo Term and Equivalent IDs
MONDO:0013081:  lymphoproliferative syndrome 1
MESH:C567815: 
NCIT:C126344: 
Orphanet:538963: 
UMLS:C3552634: