A non-X-linked syndrome with susceptibility to severe epstein-barr virus infections

Fleisher, Gary; Starr, Stuart E.; Koven, Norman L.; Kamiya, Hitoshi; Douglas, Steven D.; Henle, Werner

doi:10.1016/s0022-3476(82)80572-6

Cited by 141 publications

(86 citation statements)

References 12 publications

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“…[36][37][38] Reduced NK-cell activity has been found in other patients with unusually severe or prolonged EBV infections. [39][40][41][42] Augmented activation of NK cells by recombinant interleukin 2 has been used successfully to treat patients with chronic EBV infection, 43 although it has not so far been used in XLP.…”

Section: Familial Hemophagocytic Lymphohistiocytosismentioning

confidence: 99%

Autoimmunity in human primary immunodeficiency diseases

Arkwright

Abinun

Cant

2002

Blood

162

106

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Human primary immunodeficiency diseases are experiments of nature characterized by an increased susceptibility to infection. In many cases, they are also associated with troublesome and sometimes life-threatening autoimmune complications. In the past few years, great strides have been made in understanding the molecular basis of primary immunodeficiencies, and this had led to more focused and successful treatment. This review has 3 aims: (1) to highlight the variety of autoimmune phenomena associated with human primary immunodeficiency diseases; (2) to explore how primary immunodeficiencies predispose patients to autoimmune phenomena triggered by opportunistic infections; and (3) to consider the rationale for the current treatment strategies for autoimmune phenomena, specifically in relation to primary immunodeficiency diseases. Reviewing recent advances in our understanding of the small subgroup of patients with defined causes for their autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases. (Blood. 2002;99:2694-2702

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Section: Familial Hemophagocytic Lymphohistiocytosismentioning

confidence: 99%

Autoimmunity in human primary immunodeficiency diseases

Arkwright

Abinun

Cant

2002

Blood

162

106

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“…They are responsible for limiting the spread of blood-borne metastases as well as limiting the development of primary tumors (Kiessling et al, 1978;Hanna et al, 1980). A greatly increased incidence of viral infections has been reported in individuals lacking the NK subset of lymphocytes (Fleisher et al, 1982;Biron et al, 1989). NK cells are defined by the absence of the T cell receptor/CD3 complex, the presence of CD56 and/or CD16 on the cell surface, and the presence of cytoplasmic granules containing cytolytic proteins such as granzyme B and perforin (Lotzova, 1993).…”

Section: Introductionmentioning

confidence: 99%

Effects of a series of triorganotins on ATP levels in human natural killer cells

Holloway

Pannell

Whalen

2008

Environmental Toxicology and Pharmacology

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Natural killer (NK) cells are our initial immune defense against viral infections and cancer development. Thus, agents that are able to interfere with their function increase the risk of cancer and/or infection. A series of triorganotins, (trimethyltin (TMT), dimethylphenyltin (DMPT), methyldiphenyltin (MDPT), and triphenyltin (TPT)) have been shown to decrease the lytic function of human NK cells. TPT and MDPT were much more effective than DMPT or TMT at reducing lytic function. This study investigates the role that decreased ATP levels may play in decreases in the lytic function of NK cells induced by these OTs. A 24 h exposure to as high as 10 μM TMT caused no decrease in ATP levels even though this level of TMT caused a greater than 75% loss of lytic function. TPT at 200 nM caused a decrease in ATP levels of about 20% while decreasing lytic function by greater than 85%. There was no association between ATP levels and lytic function for any of the compounds when NK cells were exposed for 1h or 24 h. However, after a 48 h exposure to both DMPT and TPT decreased lytic function was associated with decreased ATP levels. There was an association between decreased lytic function and decreased ATP levels after a 6 day exposure to each of the four compounds. These studies indicate that the loss of lytic function seen after 1 h and 24 h exposures to this series of organotins cannot be accounted for by decreases in ATP. However, after longer exposures loss of lytic function may be in part be attributable to inadequate ATP levels.

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“…She was determined to stably lack both NK cells in peripheral blood as well as peripheral blood NK cell cytotoxic activity against the prototypical human NK cell target cell, the K562 erythroleukemia cell line. The first example of a functional NK cell deficiency was described in 1982 in three siblings with severe Epstein-Barr virus infection (8). All three individuals in this family had deficient K562 target cell killing activity, and the surviving affected individual has had persistently deficient function over a 30-year period (personal observation).…”

mentioning

confidence: 97%

Unraveling human natural killer cell deficiency

Orange¹

2012

J. Clin. Invest.

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NK cells are a component of the innate immune system identified in animals as serving an essential role in antiviral immunity. Establishing their role in human health has been challenging, with the most direct insight coming from the study of NK cell-deficient individuals. However, NK cell deficiencies are rare, and more research is needed. In this issue of the JCI, two independent groups of researchers have simultaneously identified the genetic cause of a human NK cell deficiency as mutation in the MCM4 gene, encoding minichromosome maintenance complex component 4. These reports suggest a critical role for the minichromosome maintenance helicase complex in NK cells and NK cell-mediated host defense.

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A non-X-linked syndrome with susceptibility to severe epstein-barr virus infections

Cited by 141 publications

References 12 publications

Autoimmunity in human primary immunodeficiency diseases

Autoimmunity in human primary immunodeficiency diseases

Effects of a series of triorganotins on ATP levels in human natural killer cells

Unraveling human natural killer cell deficiency

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