LPFS1
MCID: LYM106
MIFTS: 47
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Lymphoproliferative Syndrome 1 (LPFS1)
Categories:
Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Lymphoproliferative Syndrome 1:
Characteristics:Inheritance:
Autosomal recessive 57
Prevelance:
Combined Immunodeficiency Due to Itk Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Combined Immunodeficiency Due to Itk Deficiency:
Adolescent,Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood fatal without bone marrow transplantation Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Cancer diseases Anatomical: Blood diseases Immune diseases Nephrological diseases
ICD10:
31
32
Orphanet: 58
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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. |
Human phenotypes related to Lymphoproliferative Syndrome 1:30 (show all 21)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613011 (Updated 08-Dec-2022) |
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Organs/tissues related to Lymphoproliferative Syndrome 1:
MalaCards :
Bone Marrow,
T Cells,
Smooth Muscle,
Bone,
Liver
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Articles related to Lymphoproliferative Syndrome 1:(show all 27)
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ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:5 (show top 50) (show all 317)
UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 1:73
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Search
GEO
for disease gene expression data for Lymphoproliferative Syndrome 1.
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Pathways related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:
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Cellular components related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:
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