Fatal Infectious Mononucleosis in a Family

Rs, Bar; DeLor, C. Joseph; Kp, Clausen; Hurtubise, Paul E.; Henle, Werner; Jf, Hewetson

doi:10.1056/nejm197402142900704

Cited by 200 publications

(50 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In case 1, clinical features (fever, sore throat, malaise, lymphadenomegaly, atypical lymphocytes, hypergammaglobulinemia with raised IgM), serological tests (positive Paul-Bunnell agglutination), and histological data (plasmocytosis and increased numbers of lymphoid cells in bone marrow and lymphnodes), leave little doubt about infectious mononucleosis terminating in fatal lymphoproliferation. Similar courses of fatal infectious mononucleosis and of B-cell lymphoproliferation have been described in males of families with probable or definite X-linked immune deficiency disorders (Bar et al 1974;Purtilo et al 1975;Purtilo et al 1977) as well as in sporadic cases with defects in cell-mediated immune responses (Crawford etal. 1979;Robinson et al 1980;Thestrup-Pedersen et at.…”

Section: Discussionsupporting

confidence: 60%

“…Most of these phenotypes are associated with EBV infection and can be considered to be complications of infectious mononucleosis (Purtilo et al 1979). Bar et al (1974) reported another family of which four male cousins died of a fulminating lymphoproliferative disease associated with EBV infection. Virelizier et al (1978) described persistent EBV-infection with hypergammaglobulinemia and fatal immunoblastic proliferation in a 5-year-old girl with defective immune interferon secretion.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Fatal lymphoproliferation and acute monocytic leukemia-like disease following infectious mononucleosis in the elderly

Hehlmann¹,

Walther²,

Zöllner³

et al. 1981

Klin Wochenschr

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 60%

Section: Introductionmentioning

confidence: 99%

Fatal lymphoproliferation and acute monocytic leukemia-like disease following infectious mononucleosis in the elderly

Hehlmann¹,

Walther²,

Zöllner³

et al. 1981

Klin Wochenschr

View full text Add to dashboard Cite

show abstract

“…The most extreme example of genetic susceptibility to EBV involves young boys in whom primary infection leads to X-linked lymphoproliferative disease (XLP), a highly exaggerated form of IM, with high viral loads in infected B cells accompanied by massive CD8 + T cell and NK cell responses [65]. The resultant cytokine storm triggers haemophagocytic lymphohistiocytosis (HLH), leading in most cases to fatal bone marrow failure.…”

Section: The Special Case Of Xlp and Its Relative Xiapmentioning

confidence: 99%

Cellular immune controls over Epstein–Barr virus infection: new lessons from the clinic and the laboratory

Rickinson

Long

Palendira

et al. 2014

Trends in Immunology

108

104

View full text Add to dashboard Cite

Epstein-Barr virus (EBV), a human herpesvirus with potent B cell growth transforming ability, induces multiple cellular immune responses in the infected host. How these host responses work together to prevent virus pathogenicity, and how immune imbalance predisposes to disease, remain poorly understood. Here, we describe three ongoing lines of enquiry that are shedding new light on these issues. These focus on: (i) patients with infectious mononucleosis or its fatal equivalent, X-linked lymphoproliferative disease; (ii) EBV infection in a range of new, genetically defined, primary immune deficiency states; and (iii) experimental infection in two complementary animal models, the rhesus macaque and the human haemopoietic stem cell reconstituted mouse.

show abstract

“…This X-linked lymphoproliferative (XLP) syndrome mutation in some way prevents the immune system of an affected male from making an appropriate response to EBV infection (1)(2)(3)(4). Before EBV infection occurs, males with an XLP mutation have normal cellular and humoral immune responses (5) and respond normally to bacterial and viral infections other than EBV.…”

mentioning

confidence: 99%

Mapping the X-linked lymphoproliferative syndrome.

Skare¹,

Milunsky²,

Byron³

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.Epstein-Barr virus (EBV)-associated diseases-infectious mononucleosis, nasopharyngeal carcinoma, and Burkitt lymphoma-cause considerable morbidity and mortality. After EBV infection B lymphocytes are efficiently transformed into persistently proliferating lymphoblastoid cells. These cells can be killed by other proliferating cells that are evoked in an immune response. Infection of children is usually asymptomatic, but nonimmune adults develop infectious mononucleosis. EBV-induced lymphoproliferation is fatal in some new world primate species and in a small number of human subjects with both inherited and acquired immunodeficiencies. One such defect results from a mutation of the X chromosome.This X-linked lymphoproliferative (XLP) syndrome mutation in some way prevents the immune system of an affected male from making an appropriate response to EBV infection (1-4). Before EBV infection occurs, males with an XLP mutation have normal cellular and humoral immune responses (5) and respond normally to bacterial and viral infections other than EBV. After EBV infection, about 75% of males with XLP develop fatal infectious mononucleosis, with liver destruction often the immediate cause of death. Boys with XLP who survive EBV infection have defects in humoral and cellular immunity and a high incidence of lymphoma (4-6). The interaction between EBV and B lymphocytes appears normal in affected males, but EBV-induced activation of anomalous killer T cells may cause the lymphoreticular cytopathology that leads to symptoms (5).Restriction fragment length polymorphism (RFLP) markers are being used to map genetic disease loci and to construct the human genetic map (7). In this report we describe the use of X chromosome RFLPs to study a family with XLP. The discovery of RFLPs flanking the XLP locus will enable diagnosis prior to infection and may prove an important step toward understanding XLP at the molecular level. [a-32P]dATP. The blots were washed in 0.08% NaCl/0.1% NaDodSO4/0.08% Tris base/ 0.02% H3PO4 at 60°C and autoradiographed with an intensifying screen at -70°C.RFLP probes used and their locations are as follows:

show abstract

Fatal Infectious Mononucleosis in a Family

Cited by 200 publications

References 19 publications

Fatal lymphoproliferation and acute monocytic leukemia-like disease following infectious mononucleosis in the elderly

Fatal lymphoproliferation and acute monocytic leukemia-like disease following infectious mononucleosis in the elderly

Cellular immune controls over Epstein–Barr virus infection: new lessons from the clinic and the laboratory

Mapping the X-linked lymphoproliferative syndrome.

Contact Info

Product

Resources

About