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1 XLP is caused by mutations affecting SAP, an adaptor tha
2 XLP should always be a consideration in males with Epste
4 rs, X-linked lymphoproliferative syndrome 2 (XLP-2) and very-early-onset inflammatory bowel disease (
5 -linked lymphoproliferative syndrome type-2 (XLP-2) is associated with deficiency in X-linked inhibit
6 males, so-called sporadic XLP (males with an XLP phenotype after EBV infection but no family history
7 These results indicate that XLP(A1)-1 and XLP(A1)-2 are functional Xenopus LPA receptors and demon
8 nt between identified types of mutations and XLP patient clinical presentation, additional unidentifi
10 D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr v
11 us for X-linked lymphoproliferative disease (XLP) and we found mutations in the SAP gene in three XLP
17 ons of X-linked lymphoproliferative disease (XLP) is progressive agammaglobulinemia, caused by the ab
18 s with X-linked lymphoproliferative disease (XLP) lack such class-switched memory B cells but are hig
21 ciency X-linked lymphoproliferative disease (XLP), which is caused by mutations in SH2D1A, are highly
22 isease X-linked lymphoproliferative disease (XLP), which is caused by mutations in SH2D1A/SAP that en
23 s with X-linked lymphoproliferative disease (XLP), who harbored germline mutations in SH2D1A, also la
24 s with X-linked lymphoproliferative disease (XLP), who lack functional SAP, were hyperresponsive to P
31 tions in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype an
32 identity of DSHP as the gene responsible for XLP, and suggest a role in the regulation of lymphocyte
33 virus saimiri-immortalized CD4 Th cells from XLP patients and normal healthy individuals were examine
34 se results demonstrate that CD4 T cells from XLP patients exhibit aberrant TCR signal transduction an
36 use model recapitulate key features of human XLP and clarify SAP's critical role regulating both cell
37 e latter suggests that residual NKT cells in XLP patients might contribute to variations in dysgammag
38 In this study we estimated the deletion in XLP patient 43-004 by dual-laser flow karyotyping to inv
40 Further analyses of the SAP/SH2D1A gene in XLP patients have made it clear that the development of
41 reen and analysis of mutations identified in XLP patients confirm that these extended interactions ar
42 hocyte activation, while its inactivation in XLP patients results in a selective immunodeficiency to
44 nd extracellular signal-regulated kinases in XLP CD4 T cells was transient and rapidly diminished whe
45 dentified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a s
46 P/SH2D1A, the product of the gene mutated in XLP, is a small protein that comprises a single SH2 doma
47 tudies and analyses of missense mutations in XLP patients, support the notion that SAP/SH2D1A is a na
53 pendent 2B4 receptor is sufficient to induce XLP-like aggravation of EBV disease in mice with reconst
54 Patients with X-linked lymphoproliferative (XLP) disease due to deficiency in the adaptor molecule s
55 cular basis of X-linked lymphoproliferative (XLP) disease has been attributed to mutations in the sig
57 most cases of X-linked lymphoproliferative (XLP) syndrome, a rare genetic disorder characterized by
58 were treated with exogenous PP-IX (mimicking XLP extrahepatic protoporphyria) or with the iron chelat
66 g 2 (NOD2); however, the reported effects of XLP-2 and VEO-IBD XIAP mutations on cell death have been
67 SAP-deficient mice recapitulate features of XLP, including increased T cell activation and decreased
70 after EBV infection but no family history of XLP) or in 9 patients with chronic active EBV syndrome.
76 These results suggest that the phenotype of XLP may result from perturbed signaling not only through
77 ic postinfectious mononucleosis phenotype of XLP with hypogammaglobulinemia and malignant lymphoma, a
80 NOD2 signaling while reconciling the role of XLP-2 and VEO-IBD XIAP mutations in inflammatory cell de
82 ated immunopathology, confirming 30 years of XLP clinical observations and indirect experimentation.
85 patients with confirmed diagnoses of EPP or XLP from November 1, 2010, to December 6, 2015, at 6 aca
91 porphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable d
93 s were found in 25 males, so-called sporadic XLP (males with an XLP phenotype after EBV infection but
95 f the X-linked lymphoproliferative syndrome (XLP) has advanced significantly in the last two years.
96 f the X-linked lymphoproliferative syndrome (XLP) has advanced significantly in the past two years.
98 ct in X-linked lymphoproliferative syndrome (XLP) is the Src homology 2 domain-containing protein SAP
99 ed in X-linked lymphoproliferative syndrome (XLP), consists of a single SH2 domain that has been show
100 both families, these findings indicate that XLP must be considered when more than one male patient w
103 consistent XIAP cell death data to show that XLP-2 and VEO-IBD XIAP mutations that exhibit a loss-of-
117 ales with clinical syndromes consistent with XLP, predominantly EBV-HLH, had patterns of SH2D1A prote
119 e we show that T cells from individuals with XLP are specifically resistant to apoptosis mediated by
125 rant/transitional B cells from patients with XLP were enriched in autoreactive clones, revealing a de
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