Lymphoproliferative Syndrome 1 (LPFS1)

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Disease Ontology 12 DOID:0060707 OMIM® 57 613011 OMIM Phenotypic Series 57 PS308240 KEGG 36 H01970 MeSH 44 D008232

ICD10 32 D47.9 Orphanet 58 ORPHA538963 MedGen 41 C2751686 C3552634 SNOMED-CT via HPO 68 109979007 118599009 118602004 118605002 118606001 123785006 127034005 128091003 13172003 14537002 16294009 165468009 190981001 1929004 20607006 234490009 258211005 277466009 30746006 32273002 373945007 413603009 413616009 414629003 46923007 60046008 61170000 70600005 74189002 77121009 77957000 80515008 84631004 more UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Lymphoproliferative Syndrome 1, also known as lpfs1, 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 T cell receptor signaling pathway and Innate Immune System. Affiliated tissues include t cells, bone marrow 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.

KEGG : ³⁶ Lymphoproliferative syndrome 1 is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common immunological features are a progressive hypogammaglobulinemia and a progressive loss of CD4+ T cells with a declining proportion of naive T cells.

UniProtKB/Swiss-Prot : ⁷² 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 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 1

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