scholarly journals Epstein-Barr virus induced hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease

2014 ◽  
Vol 5 (02) ◽  
pp. 171-174 ◽  
Author(s):  
Senthilkumar Sankararaman ◽  
Rosario Maria Riel-Romero ◽  
Majed Jeroudi ◽  
Eduardo Gonzalez-Toledo
Keyword(s):  
Magnetic Resonance ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Epstein Barr Virus ◽  
Genetic Disorder ◽  
Lymphoproliferative Disease ◽  
Specific Pattern ◽  
Resonance Spectroscopy ◽  
Barr Virus ◽  
Epstein Barr ◽  
The Brain

ABSTRACTX-linked lymphoproliferative disease (XLP) is a rare, often fatal genetic disorder characterized by extreme vulnerability to Epstein-Barr virus (EBV). EBV-induced hemophagocytic lymphohistiocytosis (HLH) is a known presentation in XLP. In EBV-induced HLH in XLP, the brain imaging findings in the acute phase include a non specific pattern. In this report, we highlight the magnetic resonance imaging and magnetic resonance spectroscopy findings in a child with EBV induced HLH in XLP.

scholarly journals X-Linked Lymphoproliferative Disease Presenting as Pancytopenia in a 10-Month-Old Boy

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
S. Nicole Chadha ◽  
David Amrol
Keyword(s):  
Immune Responses ◽  
Fulminant Hepatitis ◽  
Epstein Barr Virus ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Lymphoproliferative Disease ◽  
Barr Virus ◽  
Ebv Infection ◽  
Epstein Barr ◽  
Patient Presentation

X-linked lymphoproliferative disease, also known as Duncan's syndrome, is a rare genetic disorder that causes exaggerated immune responses to Epstein-Barr virus (EBV) infection and often leads to death. Patient presentation varies but can include signs and symptoms typical of EBV, pancytopenia, and fulminant hepatitis.

SH2D1A mutations in Japanese males with severe Epstein-Barr virus–associated illnesses

Blood ◽  
2001 ◽  
Vol 98 (4) ◽  
pp. 1268-1270 ◽  
Author(s):  
Ryo Sumazaki ◽  
Hirokazu Kanegane ◽  
Maki Osaki ◽  
Takashi Fukushima ◽  
Masahiro Tsuchida ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Infectious Mononucleosis ◽  
Epstein Barr Virus ◽  
Genetic Disorder ◽  
Lymphoproliferative Disease ◽  
Barr Virus ◽  
Ebv Infection ◽  
Sporadic Cases ◽  
Epstein Barr ◽  
Acute Infectious Mononucleosis

X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. To search for the occurrence of SH2D1A mutations in Japan, we performed genetic analysis of the SH2D1A gene in 40 males presenting with severe EBV-associated illnesses, including fulminant infectious mononucleosis, EBV-positive lymphoma, and severe chronic active EBV infection. SH2D1A mutations were detected in 10 of these 40 patients. Five of these 10 cases were sporadic. Patients with SH2D1A mutations displayed severe acute infectious mononucleosis with hyperimmunoglobulin M, hypogammaglobulinemia, and B-cell malignant lymphoma. By contrast, chronic active EBV infection was not associated with SH2D1Amutations. XLP survivors exhibited normal levels of circulating EBV-DNA during convalescence, suggesting that SH2D1A protein is not directly responsible for control of EBV replication. Thus, genetic analysis of the SH2D1A gene is particularly useful in the diagnosis of sporadic cases and carriers of XLP.

scholarly journals Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Moriah Forster ◽  
Timothy Moran ◽  
Anne Beaven ◽  
Timothy Voorhees
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Epstein Barr Virus ◽  
Severe Combined Immunodeficiency ◽  
Lymphoproliferative Disease ◽  
Receptor Complex ◽  
Combined Immunodeficiency ◽  
Barr Virus ◽  
Zeta Chain ◽  
Integral Role ◽  
Epstein Barr

Zeta-chain-associated protein kinase 70 (ZAP-70) plays an integral role in the T-cell antigenic receptor complex. A deficiency of this kinase leads to a phenotype of severe combined immunodeficiency, while hypomorphic mutations of the kinase lead to more mild immunodeficiency phenotypes. We present a case of a 21-year-old patient with lymphadenopathy who was found to have Epstein–Barr virus (EBV) lymphoproliferative disease (LPD) and the development of hemophagocytic lymphohistiocytosis (HLH). On further workup, the patient was ultimately found to have a homozygous intrionic mutation in ZAP-70. This is a novel ZAP-70 mutation (c.1623 + 5G > A) associated with combined immunodeficiency and an EBV-positive LPD. A primary immunodeficiency is important to consider in a young, otherwise healthy patient presenting with an EBV-positive LPD.

scholarly journals EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Michelle M. Korah-Sedgwick ◽  
Luke A. Wall
Keyword(s):  
Epstein Barr Virus ◽  
Hematopoietic Stem Cell Transplant ◽  
Lymphoproliferative Disease ◽  
Cell Transplant ◽  
Hematopoietic Stem ◽  
Barr Virus ◽  
Ebv Infection ◽  
Epstein Barr ◽  
Behavioral Aggression ◽  
The Brain

Patients with X-linked lymphoproliferative disease 1 (XLP1) are exquisitely susceptible to Epstein-Barr virus (EBV), with the first EBV infection often resulting in rapid death. In a manner not previously described, a 5-year-old patient with XLP1 presented solely with behavioral aggression, with no laboratory evidence of organ dysfunction or inflammation. Although EBV-IgM was negative, PCR confirmed the presence of EBV in both the blood and cerebrospinal fluid. MRI of the brain showed frontal lobe foci. After failure to eradicate his viremia with ganciclovir, rituximab was administered. EBV was eradicated from the blood after the second rituximab infusion and remained absent for 5 months, at which time he underwent hematopoietic stem cell transplant. Although EBV classically produces fulminant infection in patients with XLP1, this case demonstrates that EBV infection may be initially subtle. Acute change in behavior should prompt evaluation. This case also demonstrates the possible effectiveness of rituximab in the treatment of acute EBV infection.

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