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LPFS2
MCID: LYM107
MIFTS: 41
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Lymphoproliferative Syndrome 2 (LPFS2)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Lymphoproliferative Syndrome 2:
Characteristics:Orphanet epidemiological data:59
combined immunodeficiency due to cd27 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in first months or years of life variable survival recurrent acute episodes favorable response to rituxan (in some patients) HPO:32
lymphoproliferative syndrome 2:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases Gastrointestinal diseases
ICD10:
33
34
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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)
MalaCards based summary : Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to hemophagocytic lymphohistiocytosis and lymphoproliferative syndrome, x-linked, 2, and has symptoms including fever An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Development Angiotensin activation of ERK and TRAF Pathway. Affiliated tissues include t cells and b cells, and related phenotypes are ascites and aplastic anemia Disease Ontology : 12 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. UniProtKB/Swiss-Prot : 74 Lymphoproliferative syndrome 2: 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. |
Human phenotypes related to Lymphoproliferative Syndrome 2:32 (show all 11)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615122UMLS symptoms related to Lymphoproliferative Syndrome 2:fever |
Interventional clinical trials:
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MalaCards organs/tissues related to Lymphoproliferative Syndrome 2:41
T Cells,
B Cells
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Articles related to Lymphoproliferative Syndrome 2:
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Genes related to Lymphoproliferative Syndrome 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:6 (show all 22)
UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 2:74
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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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Biological processes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:
Molecular functions related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:
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