Lymphoproliferative Syndrome, X-Linked, 2 (XLP2)

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Disease Ontology 12 DOID:0060706 OMIM 56 300635 OMIM Phenotypic Series 56 PS308240 MeSH 43 D008232 ICD10 32 D82.3

Orphanet 58 ORPHA538934 MedGen 41 C1845076 SNOMED-CT via HPO 68 11381005 119250001 128241005 16294009 234457009 234532001 263934009 304132006 306058006 32861005 386661006 50177009 61070002 64226004 77957000 80515008 more UMLS 71 C1845076

OMIM : ⁵⁶ 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 xlp2, is related to dysgammaglobulinemia and lymphoproliferative syndrome, x-linked, 1. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 2 is XIAP (X-Linked Inhibitor Of Apoptosis), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Pharmaceutical Solutions and polysaccharide-K 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 : ⁷³ 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.

Clinical features from OMIM:

300635

Search NIH Clinical Center for Lymphoproliferative Syndrome, X-Linked, 2

Search GEO for disease gene expression data for Lymphoproliferative Syndrome, X-Linked, 2.