|
|
 Previous Article | Table of Contents | Next Article 
Blood, 1 January 2001, Vol. 97, No. 1, pp. 95-100
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS
Lymphocytic vasculitis in X-linked lymphoproliferative
disease
Jan P. Dutz,
Loralyn Benoit,
Xiaoxia Wang,
Douglas J. Demetrick,
Anne Junker,
Derek de Sa, and
Rusung Tan
From the Departments of Medicine, Pathology & Laboratory Medicine and Pediatrics, University of British Columbia and
British Columbia's Children's Hospital; and the Department of
Pathology, University of Calgary, Alberta, Canada.
Systemic vasculitis is an uncommon manifestation of X-linked
lymphoproliferative disease (XLP), a disorder in which there is a
selective immune deficiency to Epstein-Barr virus (EBV). The molecular
basis for XLP has recently been ascribed to mutations within
SLAM-associated protein (SAP), an SH2 domain-containing protein
expressed primarily in T cells. The authors describe a patient who died
as a result of chronic systemic vasculitis and fulfilled clinical
criteria for the diagnosis of XLP. Sequencing of this patient's
SAP gene uncovered a novel point mutation affecting the SH2
domain. The patient presented with virus-associated hemophagocytic syndrome (VAHS) and later had chorioretinitis, bronchiectasis, and
hypogammaglobulinemia develop. He further developed mononeuritis and
fatal respiratory failure. Evidence of widespread small and medium
vessel vasculitis was noted at autopsy with involvement of retinal,
cerebral, and coronary arteries as well as the segmental vessels of the
kidneys, testes, and pancreas. Immunohistochemical analysis using
antibodies to CD20, CD45RO, and CD8 revealed that the vessel wall
infiltrates consisted primarily of CD8+ T cells,
implying a cytotoxic T-lymphocyte response to antigen. EBV DNA was
detected by polymerase chain reaction (PCR) in arterial wall tissue
microdissected from infiltrated vessels further suggesting that the
CD8+ T cells were targeting EBV antigens within the
endothelium. The authors propose that functional inactivation of the
SAP protein can impair the immunologic response to EBV, resulting in
systemic vasculitis.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
Related Letter in Blood Online:
-
Manifestations of X-linked lymphoproliferative disease without prior Epstein-Barr virus exposure
- Volker Schuster, Kerstin Steppberger, Michael Borte, Rusung Tan, Jan Dutz, Loralyn Benoit, Derek de Sa, and Anne Junker
Blood 2001 98: 1986-1987.
[Full Text]
[PDF]
This article has been cited by other articles:
|
|
|
|
 
H. Verhelst, R. Van Coster, N. Bockaert, G. Laureys, S. Latour, A. Fischer, and F. Haerynck
LIMBIC ENCEPHALITIS AS PRESENTATION OF A SAP DEFICIENCY
Neurology,
July 10, 2007;
69(2):
218 - 219.
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Aoukaty and R. Tan
Role for Glycogen Synthase Kinase-3 in NK Cell Cytotoxicity and X-Linked Lymphoproliferative Disease
J. Immunol.,
April 15, 2005;
174(8):
4551 - 4558.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
B. Chung, A. Aoukaty, J. Dutz, C. Terhorst, and R. Tan
Cutting Edge: Signaling Lymphocytic Activation Molecule-Associated Protein Controls NKT Cell Functions
J. Immunol.,
March 15, 2005;
174(6):
3153 - 3157.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. Chen, F. Relouzat, R. Roncagalli, A. Aoukaty, R. Tan, S. Latour, and A. Veillette
Molecular Dissection of 2B4 Signaling: Implications for Signal Transduction by SLAM-Related Receptors
Mol. Cell. Biol.,
June 15, 2004;
24(12):
5144 - 5156.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. L. Moore, C. C. Brown, and K. R. Spindler
T Cells Cause Acute Immunopathology and Are Required for Long-Term Survival in Mouse Adenovirus Type 1-Induced Encephalomyelitis
J. Virol.,
September 15, 2003;
77(18):
10060 - 10070.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
V. S. Hershberger, R. K. Hutchins, D. P. Witte, S. Schneider, R. E. Harris, and S. J. McGonegle
Epstein-Barr Virus-Related Bilateral Acute Retinal Necrosis in a Patient With X-linked Lymphoproliferative Disorder
Arch Ophthalmol,
July 1, 2003;
121(7):
1047 - 1049.
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Aoukaty and R. Tan
Association of the X-linked Lymphoproliferative Disease Gene Product SAP/SH2D1A with 2B4, a Natural Killer Cell-activating Molecule, Is Dependent on Phosphoinositide 3-Kinase
J. Biol. Chem.,
April 5, 2002;
277(15):
13331 - 13337.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
V. Schuster, K. Steppberger, M. Borte, R. Tan, J. Dutz, L. Benoit, D. de Sa, and A. Junker
Manifestations of X-linked lymphoproliferative disease without prior Epstein-Barr virus exposure
Blood,
September 15, 2001;
98(6):
1986 - 1987.
[Full Text]
[PDF]
|
|
|
|
|
