lymphoproliferative syndrome 1
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..
MONDO:0016536
obsolete autosomal recessive lymphoproliferative disease (obsolete MONDO:0016536)
excluded_subClassOf
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0016537
lymphoproliferative syndrome
is_a
MONDO:0021094
immunodeficiency disease
is_a
ITK deficiency
exact
ITK lymphoproliferative syndrome
exact
LPFS1
exact
lymphoproliferative syndrome 1
exact
lymphoproliferative syndrome caused by mutation in ITK
exact
lymphoproliferative syndrome type 1
exact