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XLP2
MCID: LYM114
MIFTS: 50
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Lymphoproliferative Syndrome, X-Linked, 2 (XLP2)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lymphoproliferative Syndrome, X-Linked, 2:
Characteristics:OMIM:58
Miscellaneous:
highly variable phenotype onset in first decades of life, usually early childhood later onset can occur death can occur males are more severely affected some female carries may have milder manifestations the incidence of mutation in xiap leading to xlp2 is estimated to be 1 to 2 cases per million live births
Inheritance:
x-linked recessive HPO:33
lymphoproliferative syndrome, x-linked, 2:
Onset and clinical course phenotypic variability Inheritance x-linked inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Immune diseases Skin diseases Blood diseases
ICD10:
34
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OMIM
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58
XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA; 191160), and general dysregulation of the immune pathway, such as increased levels of IL18 (600953). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).
Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.
For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (308240). (300635)
MalaCards based summary : Lymphoproliferative Syndrome, X-Linked, 2, also known as xiap deficiency, is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 2 is XIAP (X-Linked Inhibitor Of Apoptosis), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Deubiquitination. The drugs polysaccharide-K and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and skin, and related phenotypes are splenomegaly and fever Disease Ontology : 12 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has material basis in mutation in the XIAP gene on chromosome Xq25. UniProtKB/Swiss-Prot : 76 Lymphoproliferative syndrome, X-linked, 2: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. |
Human phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2:33 (show all 16)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:300635GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:27
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Drugs for Lymphoproliferative Syndrome, X-Linked, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Lymphoproliferative Syndrome, X-Linked, 2:42
T Cells,
Nk Cells,
Skin,
B Cells,
Monocytes,
Testes
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Articles related to Lymphoproliferative Syndrome, X-Linked, 2:(show all 30)
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Genes related to Lymphoproliferative Syndrome, X-Linked, 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphoproliferative Syndrome, X-Linked, 2:6 (show all 49)
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Search
GEO
for disease gene expression data for Lymphoproliferative Syndrome, X-Linked, 2.
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Pathways related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:
Biological processes related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:(show all 30)
Molecular functions related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:
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