X-Linked Recessive Progressive Combined Variable Immunodeficiency (Duncan's Disease)

Purtilo, DavidT.; Yang, JamesP.S.; Cassel, C. K.; Harper, Robert; Stephenson, StephenR.; Landing, B H; Vawter, GordonF.

doi:10.1016/s0140-6736(75)92004-8

Cited by 503 publications

(230 citation statements)

References 32 publications

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“…In most cases, the pro gnosis is good. However, in the immunocompromised host as in Duncan's disease (2), ataxia-teleangiectasia (3), Wiscott-Aldrich syndrome (4) or the acquired immunodeficiency syndrome (5) , and also in the immuno competent host with no hereditary background (6), EBV infection may show a chronic and active manifestation. This syndrome has been named severe chronic active EBV infection syndrome, and is characterized by markedly high titers of EBV-associated antibodies, and serious symptoms and signs such as persistent high fever, hepa tosplenomegaly, lymphadenitis and liver dysfunction.…”

Section: Introductionmentioning

confidence: 99%

An Adult Case of Severe Chronic Active Epstein-Barr Virus Infection Syndrome.

et al. 1992

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A 23-year-old man with persisting high fever developed hepatosplenomegaly, lymphadeno pathy and massive pericardial effusion. Immunologieal examination revealed a marked elevation of anti-Epstein-Barr virus antibodies (anti-viral capsid antigens IgG-antibody 1:10,240, anti early antigens-DR IgG-antibody 1:5,120), decreased activities of Epstein-Barr virus specific cytotoxic T lymphocytes, natural killer cells and lymphokine activated killer cells. A liver biopsy showed moderate sinusoidal lymphocytosis with punched-out lesions. These findings suggested severe chronic active Epstein-Barr virus infection syndrome. The patient was treated with recombinant human interleukin-2, but it was discontinued because of an adverse reaction. Twelve months later, he died of suspected pulmonary infection.

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Section: Introductionmentioning

confidence: 99%

An Adult Case of Severe Chronic Active Epstein-Barr Virus Infection Syndrome.

et al. 1992

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“…X-linked lymphoproliferative (XLP) syndrome was first described 30 years ago in a family where otherwise healthy males died from fulminant infectious mononucleosis after contracting Epstein-Barr virus (EBV) [1]. Apart from the high fatality rate related to EBV infection, these patients are at high risk of developing lymphomas and hypogammaglobulinaemia [2], as well as rare manifestations such as vasculitis [3].…”

Section: Introductionmentioning

confidence: 99%

Follicular Lymphoma in a X‐linked Lymphoproliferative Syndrome Carrier Female

Woon¹,

Ameratunga²,

Croxson³

et al. 2008

Scand J Immunol

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X‐linked lymphoproliferative (XLP) syndrome is a rare primary immune‐deficiency disorder caused by mutations of the SH2D1A or XIAP genes. Males with the disorder are usually in good health until contracting Epstein–Barr virus (EBV) whereupon the majority of patients die from fulminant infectious mononucleosis, lymphoma or hypogammaglobulinaemia. This report describes a female carrier with an XLP phenotype who was retrospectively identified after her grandson died from the disorder. Subsequent genetic testing identified the patient's mother and affected maternal grandmother as XLP carriers. The family’s medical records were significant. The proband had lymphoma at ages 2 and 8 and made a full recovery following treatment. Both the maternal grandmother and uncle died of non‐Hodgkin’s lymphoma. We were concerned that the XLP carrier mother may be predisposed to lymphoma if the normal X chromosome is skewed towards inactivation. The human androgen receptor assay detected random X chromosome inactivation in the carrier mother. EBV was not detected in the lymphoma tissues of the proband and his grandmother, confirming previous findings that EBV is not always associated with lymphoma in XLP. More significantly, our study highlights the importance of identifying XLP in families with a high incidence of lymphoma.

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“…X'e bağlı geçiş gösteren lenfoproliferatif sendrom (XLP) Ebstein Barr virus (EBV) enfeksiyonu sonrası gelişen ciddi klinik seyirli, familyal, primer immün yetmezlik hastalığıdır (1). İmmün sistemi sağlam kişilerin aksine, bu hastalarda EBV infeksiyonu kontrol altına alınamaz ve çoğunlukla fatal seyreder.…”

Section: ö öZ Ze Et Tunclassified

X'e Bağli Geçi̇ş Gösteren Lenfoproli̇ferati̇f Sendrom: Kli̇ni̇k, Patogenez Ve Geneti̇kle İlgi̇li̇ Geli̇şmeler

Mutlu;İKİNCİOĞULLARI¹

2004

Ankara Üniversitesi Tıp Fakültesi Mecmuası

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X-Linked Recessive Progressive Combined Variable Immunodeficiency (Duncan's Disease)

Cited by 503 publications

References 32 publications

An Adult Case of Severe Chronic Active Epstein-Barr Virus Infection Syndrome.

An Adult Case of Severe Chronic Active Epstein-Barr Virus Infection Syndrome.

Follicular Lymphoma in a X‐linked Lymphoproliferative Syndrome Carrier Female

X'e Bağli Geçi̇ş Gösteren Lenfoproli̇ferati̇f Sendrom: Kli̇ni̇k, Patogenez Ve Geneti̇kle İlgi̇li̇ Geli̇şmeler

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