Lymphoproliferative Syndrome 1 (LPFS1)

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OMIM®: ⁵⁷ Lymphoproliferative syndrome-1 is 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. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (613011) (Updated 08-Dec-2022)

MalaCards based summary: Lymphoproliferative Syndrome 1, also known as lymphoproliferative syndrome, ebv-associated, autosomal, 1, is related to lymphoproliferative syndrome, x-linked, 1 and dysgammaglobulinemia. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are Apoptosis and Autophagy and Apoptosis and survival FAS signaling cascades. Affiliated tissues include bone marrow, t cells and smooth muscle, and related phenotypes are splenomegaly and hepatomegaly

Orphanet: ⁵⁸ A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.

Disease Ontology: ¹¹ A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has material basis in homozygous mutation in the ITK gene on chromosome 5q32.

UniProtKB/Swiss-Prot: ⁷³ 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.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Lymphoproliferative Syndrome 1