Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.
X-linked lymphoproliferative disease (XLP) is an immunodeficiency caused by defects in the adaptor molecule SAP. The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, hypogammaglobulinemia and lymphoma. In this report, we describe two unrelated patients with fatal T-cell-mediated central nervous system vasculitis for whom repeated serologic and molecular testing for EBV was negative. In both patients, clonal T-cell populations were observed, but neither demonstrated evidence of lymphoma. Thus, loss of SAP function can lead to dysregulated immune responses characterized by the uncontrolled expansion and activation of T cells independent of EBV infection.
Talaat
Kawsar R
KR
Laboratory of Parasitic Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Rothman
Jennifer A
JA
Cohen
Jeffrey I
JI
Santi
Mariarita
M
Choi
John K
JK
Guzman
Miguel
M
Zimmerman
Robert
R
Nallasamy
Sudha
S
Brucker
Alexander
A
Quezado
Martha
M
Pittaluga
Stefania
S
Patronas
Nicholas J
NJ
Klion
Amy D
AD
Nichols
Kim E
KE
D000293:Adolescent; D000328:Adult; D002490:Central Nervous System / Q000276:immunology*; D020031:Epstein-Barr Virus Infections; D017809:Fatal Outcome; D040181:Genetic Diseases, X-Linked; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D042601:Lymphatic Vessels / Q000473:pathology*; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000276:immunology / Q000473:pathology; D008297:Male; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D013601:T-Lymphocytes / Q000473:pathology; D014657:Vasculitis / Q000209:etiology*
D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein