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LPFS3
MCID: LYM151
MIFTS: 32
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Lymphoproliferative Syndrome 3 (LPFS3)
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 3:
Characteristics:Inheritance:
Autosomal recessive 57
Prevelance:
Combined Immunodeficiency Due to Cd70 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Combined Immunodeficiency Due to Cd70 Deficiency:
Childhood,Infancy 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases Anatomical: Blood diseases Immune diseases Nephrological diseases
ICD10:
32
Orphanet: 58
Rare immunological diseases |
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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 08-Dec-2022) MalaCards based summary: Lymphoproliferative Syndrome 3, also known as lpfs3, is related to autoimmune lymphoproliferative syndrome, type iii and agammaglobulinemia, x-linked. An important gene associated with Lymphoproliferative Syndrome 3 is CD70 (CD70 Molecule), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent infections and lymphadenopathy Orphanet: 58 A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. UniProtKB/Swiss-Prot: 73 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 3:30 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618261 (Updated 08-Dec-2022) |
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Organs/tissues related to Lymphoproliferative Syndrome 3:
MalaCards :
B Cells,
T Cells,
Nk Cells
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Articles related to Lymphoproliferative Syndrome 3:
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Genes related to Lymphoproliferative Syndrome 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:5
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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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