Lymphoproliferative Syndrome 1

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OMIM 57 613011 Disease Ontology 12 DOID:0060707 ICD10 33 D47.9 MedGen 42 C3552634 C2751686

MeSH 44 D008232 KEGG 37 H01970 SNOMED-CT via HPO 69 258211005 16294009 302215000 415116008 127034005 165397008 271737000 80515008 115244002 118600007 188676008 21964009 30746006 85828009 165468009 123785006 190981001 20607006 61170000 110426005 398870000 426965005 427617000 more UMLS 73 C3552634

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)

MalaCards based summary : Lymphoproliferative Syndrome 1, also known as lpfs1, is related to lymphoproliferative syndrome, x-linked, 1 and selective immunoglobulin deficiency disease. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. Affiliated tissues include t cells, liver and bone, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : ¹² 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 : ⁷⁵ Lymphoproliferative syndrome 1: 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:

613011

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 1

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 1.