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LPFS2
MCID: LYM107
MIFTS: 48
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Lymphoproliferative Syndrome 2 (LPFS2)
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 2:
Characteristics:Inheritance:
Lymphoproliferative Syndrome 2:
Autosomal recessive 57
Combined Immunodeficiency Due to Cd27 Deficiency:
Autosomal recessive 58
Prevelance:
Combined Immunodeficiency Due to Cd27 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Combined Immunodeficiency Due to Cd27 Deficiency:
Adolescent,Adult,Childhood,Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity onset in first months or years of life variable survival recurrent acute episodes favorable response to rituxan (in some patients) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases Anatomical: Blood diseases Immune diseases Nephrological diseases
ICD10:
31
32
Orphanet: 58
Rare immunological diseases |
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OMIM®: 57 Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (615122) (Updated 08-Dec-2022) MalaCards based summary: Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to lymphoproliferative syndrome, x-linked, 2 and agammaglobulinemia, and has symptoms including fever An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are ascites and fever UniProtKB/Swiss-Prot: 73 An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. Orphanet: 58 A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed. Disease Ontology: 11 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has material basis in homozygous mutation in the CD27 gene on chromosome 12p13. |
Human phenotypes related to Lymphoproliferative Syndrome 2:30 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615122 (Updated 08-Dec-2022)UMLS symptoms related to Lymphoproliferative Syndrome 2:fever |
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Organs/tissues related to Lymphoproliferative Syndrome 2:
MalaCards :
Bone Marrow,
Bone,
T Cells,
Nk Cells,
B Cells
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Articles related to Lymphoproliferative Syndrome 2:(show all 22)
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Genes related to Lymphoproliferative Syndrome 2 (3 elite genes):(show all 23) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:5 (show top 50) (show all 119)
UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 2:73
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Search
GEO
for disease gene expression data for Lymphoproliferative Syndrome 2.
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Pathways related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:
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Cellular components related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:
Biological processes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:
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