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Nima Rezaei - One of the best experts on this subject based on the ideXlab platform.

  • x linked lymphoproliferative syndrome a Genetic Condition typified by the triad of infection immunodeficiency and lymphoma
    British Journal of Haematology, 2011
    Co-Authors: Nima Rezaei, Elham Mahmoudi, Asghar Aghamohammadi, Rupali Das, Kim E. Nichols
    Abstract:

    X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by the clinical triad of increased susceptibility to primary Epstein-Barr virus (EBV) infection, dysgammaglobulinaemia and lymphoma. Most cases are caused by germline mutations in the SH2D1A gene, which encodes the adaptor molecule Signalling Lymphocytic Activation Molecule (SLAM)-associated protein (SAP). Recently, a subset of patients with an XLP-like phenotype was found to carry mutations in XIAP, the gene encoding the X-linked inhibitor of apoptosis protein (XIAP). Studies of XLP patients and Sap-/- mice reveal that loss of SAP expression impairs immune cell activities, such as natural killer and CD8+ T cell cytotoxicity, T cell cytokine production, activation-induced cell death, germinal centre formation and natural killer T cell development. Efforts to dissect the diverse roles of SAP and XIAP are enhancing our understanding of immune cell biology and defining how Genetic defects in these molecules predispose to EBV-specific as well as more general cellular and humoral immune dysfunction. These studies are also highlighting critical signalling pathways that might be amenable to pharmacological targeting to improve the treatment of XLP and other disorders associated with impaired antiviral and antitumour immunity.

  • X‐linked lymphoproliferative syndrome: a Genetic Condition typified by the triad of infection, immunodeficiency and lymphoma
    British journal of haematology, 2010
    Co-Authors: Nima Rezaei, Elham Mahmoudi, Asghar Aghamohammadi, Rupali Das, Kim E. Nichols
    Abstract:

    X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by the clinical triad of increased susceptibility to primary Epstein-Barr virus (EBV) infection, dysgammaglobulinaemia and lymphoma. Most cases are caused by germline mutations in the SH2D1A gene, which encodes the adaptor molecule Signalling Lymphocytic Activation Molecule (SLAM)-associated protein (SAP). Recently, a subset of patients with an XLP-like phenotype was found to carry mutations in XIAP, the gene encoding the X-linked inhibitor of apoptosis protein (XIAP). Studies of XLP patients and Sap-/- mice reveal that loss of SAP expression impairs immune cell activities, such as natural killer and CD8+ T cell cytotoxicity, T cell cytokine production, activation-induced cell death, germinal centre formation and natural killer T cell development. Efforts to dissect the diverse roles of SAP and XIAP are enhancing our understanding of immune cell biology and defining how Genetic defects in these molecules predispose to EBV-specific as well as more general cellular and humoral immune dysfunction. These studies are also highlighting critical signalling pathways that might be amenable to pharmacological targeting to improve the treatment of XLP and other disorders associated with impaired antiviral and antitumour immunity.

Kim E. Nichols - One of the best experts on this subject based on the ideXlab platform.

  • x linked lymphoproliferative syndrome a Genetic Condition typified by the triad of infection immunodeficiency and lymphoma
    British Journal of Haematology, 2011
    Co-Authors: Nima Rezaei, Elham Mahmoudi, Asghar Aghamohammadi, Rupali Das, Kim E. Nichols
    Abstract:

    X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by the clinical triad of increased susceptibility to primary Epstein-Barr virus (EBV) infection, dysgammaglobulinaemia and lymphoma. Most cases are caused by germline mutations in the SH2D1A gene, which encodes the adaptor molecule Signalling Lymphocytic Activation Molecule (SLAM)-associated protein (SAP). Recently, a subset of patients with an XLP-like phenotype was found to carry mutations in XIAP, the gene encoding the X-linked inhibitor of apoptosis protein (XIAP). Studies of XLP patients and Sap-/- mice reveal that loss of SAP expression impairs immune cell activities, such as natural killer and CD8+ T cell cytotoxicity, T cell cytokine production, activation-induced cell death, germinal centre formation and natural killer T cell development. Efforts to dissect the diverse roles of SAP and XIAP are enhancing our understanding of immune cell biology and defining how Genetic defects in these molecules predispose to EBV-specific as well as more general cellular and humoral immune dysfunction. These studies are also highlighting critical signalling pathways that might be amenable to pharmacological targeting to improve the treatment of XLP and other disorders associated with impaired antiviral and antitumour immunity.

  • X‐linked lymphoproliferative syndrome: a Genetic Condition typified by the triad of infection, immunodeficiency and lymphoma
    British journal of haematology, 2010
    Co-Authors: Nima Rezaei, Elham Mahmoudi, Asghar Aghamohammadi, Rupali Das, Kim E. Nichols
    Abstract:

    X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by the clinical triad of increased susceptibility to primary Epstein-Barr virus (EBV) infection, dysgammaglobulinaemia and lymphoma. Most cases are caused by germline mutations in the SH2D1A gene, which encodes the adaptor molecule Signalling Lymphocytic Activation Molecule (SLAM)-associated protein (SAP). Recently, a subset of patients with an XLP-like phenotype was found to carry mutations in XIAP, the gene encoding the X-linked inhibitor of apoptosis protein (XIAP). Studies of XLP patients and Sap-/- mice reveal that loss of SAP expression impairs immune cell activities, such as natural killer and CD8+ T cell cytotoxicity, T cell cytokine production, activation-induced cell death, germinal centre formation and natural killer T cell development. Efforts to dissect the diverse roles of SAP and XIAP are enhancing our understanding of immune cell biology and defining how Genetic defects in these molecules predispose to EBV-specific as well as more general cellular and humoral immune dysfunction. These studies are also highlighting critical signalling pathways that might be amenable to pharmacological targeting to improve the treatment of XLP and other disorders associated with impaired antiviral and antitumour immunity.

Robert Williamson - One of the best experts on this subject based on the ideXlab platform.

  • Providing services for families with a Genetic Condition: a contrast between cystic fibrosis and Down syndrome.
    Pediatrics, 2003
    Co-Authors: Veronica Collins, Robert Williamson
    Abstract:

    The Human Genome Project now allows tests to be offered to the community for many Genetic Conditions at birth, before or during pregnancy, or as a screen for risk of disease. Some of these tests are provided to all infants at birth (such as for phenylketonuria and cystic fibrosis [CF]), while other Genetic Conditions are ascertained clinically at birth or soon after (such as Down syndrome). The scope of newborn screening is expanding, and many programs now test for a larger number of Conditions, raising the issue of follow-up services for children and their families. Testing at birth for CF is now offered for all children born in Australia and is becoming increasingly common in the United States. The services available to families with a child born with a Genetic Condition are determined by many factors, including the type of Genetic Condition and its frequency, the medical needs of the child, and available resources. Models of service delivery also impact on the extent and type of services provided. Conditions diagnosed through a population-wide newborn screening program may have follow-up services embedded within the program, at least for the immediate period after diagnosis. Conditions diagnosed in a more ad hoc way may not have comprehensive services provided for the child and the family. Other factors impacting on Genetic services that may be equally important, but are more difficult to quantify, relate to community attitudes to particular Genetic Conditions, or to disability generally, and the capacity of interested parties to lobby for services. During the past decade prenatal testing programs have expanded. More Conditions can be detected, and the proportion of the population to whom tests are available has increased. Prenatal tests such as ultrasound and maternal serum screening are now offered to pregnant women on a routine basis to determine the …

Merlin G. Butler - One of the best experts on this subject based on the ideXlab platform.

Anita Franklin - One of the best experts on this subject based on the ideXlab platform.

  • The impact of a sibling's life‐limiting Genetic Condition on adult brothers and sisters
    American journal of medical genetics. Part A, 2017
    Co-Authors: Erica Brown, Jane Coad, Anita Franklin
    Abstract:

    It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with Genetic life-limiting or life-shortening Conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings. Although young adults may have conflicting feelings as a bereaved sibling, there is evidence that the experience impacts on their world views and their attitudes about prospective and expectant parenthood. The study highlights the importance of providing siblings with short-term and long-term support from the time of their brother's or their sister's diagnosis onward and provides new understanding about benefit of professional and peer support in helping young adults develop resilience and coping strategies.