X-Linked Lymphoproliferative Syndrome Registry report

Hamilton, Janet K.; Paquin, Louise A.; Sullivan, John L.; Maurer, Helen S.; Cruzi, Frank G.; Provisor, Arthur J.; Steuber, C. Philip; Hawkins, Edith P.; Yawn, David H.; Cornet, Jo Ann; Clausen, Kathryn P.; Finkelstein, Gerald Z.; Landing, Benjamin H.; Grunnet, Margaret L.; Purtilo, David T.

doi:10.1016/s0022-3476(80)80735-9

Cited by 85 publications

(28 citation statements)

References 12 publications

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“…40 A role for EBV in the chronic activation of T cells and macrophages has been well documented. Seven out of 7 atypical FHLpatients analyzed had low numbers of NKT cells, which is also considered a characteristic feature of XLP 33,37,38,41,42 and the recently described ITK deficiency. 35 This could either reflect a developmental defect of NKT cells, possibly associated with impaired intracellular trafficking of CD1d 43 or a secondary phenomenon to HLH episodes.…”

Section: © F E R R a T A S T O R T I F O U N D A T I O Nmentioning

confidence: 74%

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Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

Rohr¹,

Beutel²,

Maul-Pavicic³

et al. 2010

Haematologica

113

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Section: © F E R R a T A S T O R T I F O U N D A T I O Nmentioning

confidence: 74%

“…lymphoma and hypogammaglobulinemia with chronic splenomegaly. [37][38][39] Moreover, all 5 patients infected with EBV fulfilled current diagnostic criteria for chronic active EBV infection. 40 A role for EBV in the chronic activation of T cells and macrophages has been well documented.…”

Section: © F E R R a T A S T O R T I F O U N D A T I O Nmentioning

confidence: 99%

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

Rohr¹,

Beutel²,

Maul-Pavicic³

et al. 2010

Haematologica

113

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“…Bacillus Calmette-Guérin (BCG)-vaccinated healthy control individuals from the community, purified protein derivative (PPD) ϩ (induration Ͼ10 mm) and PPD Ϫ (no induration) participated in this study. Two individuals diagnosed with XLP confirmed at the International XLP Registry Headquarters, University of Nebraska Medical Center (Omaha, NE) (14) were included in this study. Peripheral blood was collected in heparinized tubes from all individuals participating in the study after receiving informed consent.…”

Section: Study Subjectsmentioning

confidence: 99%

Expression of Signaling Lymphocytic Activation Molecule- Associated Protein Interrupts IFN-γ Production in Human Tuberculosis

Pasquinelli

Quiroga

Martínez

et al. 2004

The Journal of Immunology

116

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Production of the Th1 cytokine IFN-γ by T cells is considered crucial for immunity against Mycobacterium tuberculosis infection. We evaluated IFN-γ production in tuberculosis in the context of signaling molecules known to regulate Th1 cytokines. Two populations of patients who have active tuberculosis were identified, based on their T cell responses to the bacterium. High responder tuberculosis patients displayed significant M. tuberculosis-dependent T cell proliferation and IFN-γ production, whereas low responder tuberculosis patients displayed weak or no T cell responses to M. tuberculosis. The expression of the signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) on cells from tuberculosis patients was inversely correlated with IFN-γ production in those individuals. Moreover, patients with a nonfunctional SAP gene displayed immune responses to M. tuberculosis similar to those of high responder tuberculosis patients. In contrast to SAP, T cell expression of SLAM was directly correlated with responsiveness to M. tuberculosis Ag. Our data suggest that expression of SAP interferes with Th1 responses whereas SLAM expression contributes to Th1 cytokine responses in tuberculosis. The study further suggests that SAP and SLAM might be focal points for therapeutic modulation of T cell cytokine responses in tuberculosis.

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“…To track and characterize this disease, a Registry was established in 1980 (23). As computerization advanced, the literature was scoured to identify boys who had inherited what appeared to represent an inability to confront EBV.…”

Section: The Creation Of the Xlp Registrymentioning

confidence: 99%