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- W90897910 abstract "The X-linked lymphoproliferative (XLP) syndromes are rare primary immunodeficiencies caused by germline mutations in SH2D1A and XIAP, which encode the proteins SAP and XIAP, respectively. Deficiencies in the XLP-associated proteins result in a shared susceptibility to develop hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia. SAP-deficient patients develop HLH following primary Epstein-Barr virus (EBV) infection, while XIAP-deficient patients develop HLH in response to a variety of infectious triggers. In addition to HLH, SAP deficiency is associated with the onset of non-malignant or malignant lymphoproliferative disorders and, less commonly, vasculitis and aplastic anemia. XIAP deficiency is not associated with these latter manifestations, but instead some patients develop enterocolitis. The SAP and XIAP proteins do not share structural or functional similarities, and, given the differences in disease phenotypes, SAP and XIAP deficiency appear to represent two genetically and pathologically distinct disorders of the immune system." @default.
- W90897910 created "2016-06-24" @default.
- W90897910 creator A5025442855 @default.
- W90897910 creator A5029451403 @default.
- W90897910 date "2014-01-01" @default.
- W90897910 modified "2023-09-26" @default.
- W90897910 title "The X-Linked Lymphoproliferative Syndromes" @default.
- W90897910 cites W1487843912 @default.
- W90897910 cites W1510178802 @default.
- W90897910 cites W1579416236 @default.
- W90897910 cites W1602679758 @default.
- W90897910 cites W1641067856 @default.
- W90897910 cites W1642457845 @default.
- W90897910 cites W1662706554 @default.
- W90897910 cites W1670573097 @default.
- W90897910 cites W1897597551 @default.
- W90897910 cites W1934885234 @default.
- W90897910 cites W196400686 @default.
- W90897910 cites W1966629290 @default.
- W90897910 cites W1966928572 @default.
- W90897910 cites W1968458910 @default.
- W90897910 cites W1973393242 @default.
- W90897910 cites W1973700392 @default.
- W90897910 cites W1973910785 @default.
- W90897910 cites W1975583311 @default.
- W90897910 cites W1979923454 @default.
- W90897910 cites W1985739029 @default.
- W90897910 cites W1986145638 @default.
- W90897910 cites W1986344524 @default.
- W90897910 cites W1987613612 @default.
- W90897910 cites W1988042498 @default.
- W90897910 cites W1990297263 @default.
- W90897910 cites W1990585054 @default.
- W90897910 cites W1990755959 @default.
- W90897910 cites W1993810850 @default.
- W90897910 cites W1994364686 @default.
- W90897910 cites W2003366154 @default.
- W90897910 cites W2005379404 @default.
- W90897910 cites W2008342326 @default.
- W90897910 cites W2010287907 @default.
- W90897910 cites W2010586398 @default.
- W90897910 cites W2013104500 @default.
- W90897910 cites W2014421526 @default.
- W90897910 cites W2014686737 @default.
- W90897910 cites W2016401677 @default.
- W90897910 cites W2022293841 @default.
- W90897910 cites W2022439256 @default.
- W90897910 cites W2024446466 @default.
- W90897910 cites W2025218226 @default.
- W90897910 cites W2027947833 @default.
- W90897910 cites W2029693047 @default.
- W90897910 cites W2029782045 @default.
- W90897910 cites W2030437588 @default.
- W90897910 cites W2031006767 @default.
- W90897910 cites W2031134093 @default.
- W90897910 cites W2031778332 @default.
- W90897910 cites W2033012336 @default.
- W90897910 cites W2034360895 @default.
- W90897910 cites W2036074330 @default.
- W90897910 cites W2036456469 @default.
- W90897910 cites W2039775026 @default.
- W90897910 cites W2043699657 @default.
- W90897910 cites W2046752806 @default.
- W90897910 cites W2049015108 @default.
- W90897910 cites W2050706359 @default.
- W90897910 cites W2051989832 @default.
- W90897910 cites W2052022935 @default.
- W90897910 cites W2052931854 @default.
- W90897910 cites W2053303000 @default.
- W90897910 cites W2053466113 @default.
- W90897910 cites W2053691244 @default.
- W90897910 cites W2062790922 @default.
- W90897910 cites W2064037171 @default.
- W90897910 cites W2065497789 @default.
- W90897910 cites W2067067557 @default.
- W90897910 cites W2067759988 @default.
- W90897910 cites W2069328935 @default.
- W90897910 cites W2071761673 @default.
- W90897910 cites W2072128608 @default.
- W90897910 cites W2074946955 @default.
- W90897910 cites W2076186742 @default.
- W90897910 cites W2078360530 @default.
- W90897910 cites W2079633740 @default.
- W90897910 cites W2087968540 @default.
- W90897910 cites W2090916507 @default.
- W90897910 cites W2091152430 @default.
- W90897910 cites W2097903730 @default.
- W90897910 cites W2107504707 @default.
- W90897910 cites W2110045901 @default.
- W90897910 cites W2118052576 @default.
- W90897910 cites W2122510983 @default.
- W90897910 cites W2123783417 @default.
- W90897910 cites W2131925046 @default.
- W90897910 cites W2133864160 @default.
- W90897910 cites W2133944586 @default.
- W90897910 cites W2134629002 @default.
- W90897910 cites W2138168141 @default.
- W90897910 cites W2139455152 @default.