X‐linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis

X‐linked lymphoproliferative syndrome (XLP) is a rare, often fatal, primary immunodeficiency disease characterized by an abnormal response to Epstein‐Barr virus (EBV) infection. The gene responsible for XLP has been identified as SH2D1A/DSHP/SLAM‐associated protein (SAP). The major clinical manifest...

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Bibliographic Details
Published in:American journal of hematology 2005-02, Vol.78 (2), p.130-133
Main Authors: Kanegane, Hirokazu, Ito, Yoshikiyo, Ohshima, Koichi, Shichijo, Takeshi, Tomimasu, Kunio, Nomura, Keiko, Futatani, Takeshi, Sumazaki, Ryo, Miyawaki, Toshio
Format: Article
Language:English
Subjects:
Adult
Agammaglobulinemia
Biological and medical sciences
CD8-Positive T-Lymphocytes - pathology
Epstein-Barr virus
Hematologic and hematopoietic diseases
Herpesvirus 4, Human
Humans
hypogammaglobulinemia
Infectious Mononucleosis - virology
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
lymphocytic vasculitis
Lymphoproliferative Disorders - complications
Lymphoproliferative Disorders - diagnosis
Lymphoproliferative Disorders - genetics
Magnetic Resonance Imaging
Male
Medical sciences
Metabolic diseases
Miscellaneous
Other metabolic disorders
SLAM‐associated protein
Steroids - therapeutic use
Vasculitis - etiology
Vasculitis - immunology
X‐linked lymphoproliferative syndrome
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Summary:X‐linked lymphoproliferative syndrome (XLP) is a rare, often fatal, primary immunodeficiency disease characterized by an abnormal response to Epstein‐Barr virus (EBV) infection. The gene responsible for XLP has been identified as SH2D1A/DSHP/SLAM‐associated protein (SAP). The major clinical manifestations include fulminant infectious mononucleosis, lymphoproliferative disorder, and dysgammaglobulinemia. Affected males uncommonly present with lymphocytic vasculitis in addition to aplastic anemia. In this study, we describe a Japanese XLP patient who presented with hypogammaglobulinemia following acute EBV‐induced infectious mononucleosis in the infancy and later had systemic lymphocytic vasculitis and hemophagocytic lymphohistiocytosis in the adulthood, which resolved by steroid pulse therapy. The patient's SAP gene was found to harbor a missense mutation (His8Asp), presumably resulting in defective expression of SAP in T cells. Biopsy specimens of lung and skin disclosed that CD8+ T cells predominantly infiltrated vascular vessels. However, immunohistochemical examination showed that EBV‐infected cells were not identifiable in the vessels. We propose that T‐cell‐mediated immune dysregulation in XLP can cause vasculitis by EBV infection‐unrelated mechanism. Am. J. Hematol. 78:130–133, 2005. © 2005 Wiley‐Liss, Inc.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.20261