LPFS3
MCID: LYM151
MIFTS: 30
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Lymphoproliferative Syndrome 3 (LPFS3)
Categories:
Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Lymphoproliferative Syndrome 3:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in first years of life HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Blood diseases Gastrointestinal diseases Immune diseases
Orphanet: 58
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OMIM® :
57
Lymphoproliferative syndrome-3 (LPFS3) is an autosomal recessive early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection in B cells, resulting in abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have hypogammaglobulinemia without lymphopenia, although some subsets of immune cells may be low and some patients may have recurrent infections. The disorder results from impaired signaling from proliferating B cells to effector T cells that provide immune surveillance. There may be an increased risk of solid tumors in heterozygous carriers (summary by Abolhassani et al., 2017).
For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (618261) (Updated 05-Mar-2021)
MalaCards based summary : Lymphoproliferative Syndrome 3, also known as lpfs3, is related to autoimmune lymphoproliferative syndrome, type iii and agammaglobulinemia. An important gene associated with Lymphoproliferative Syndrome 3 is CD70 (CD70 Molecule), and among its related pathways/superpathways are PAK Pathway and 4-1BB Pathway. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent infections and lymphadenopathy UniProtKB/Swiss-Prot : 73 Lymphoproliferative syndrome 3: An autosomal recessive, early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus infection in B cells, abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have lymphadenopathy and hypogammaglobulinemia, and may suffer from recurrent infections. |
Human phenotypes related to Lymphoproliferative Syndrome 3:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618261 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Lymphoproliferative Syndrome 3:40
B Cells,
T Cells,
Nk Cells
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Articles related to Lymphoproliferative Syndrome 3:
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ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:6
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Search
GEO
for disease gene expression data for Lymphoproliferative Syndrome 3.
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Pathways related to Lymphoproliferative Syndrome 3 according to GeneCards Suite gene sharing:
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Biological processes related to Lymphoproliferative Syndrome 3 according to GeneCards Suite gene sharing:
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