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Rare Mendelian cancer syndromes and other cancers
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
As with leukaemias, most cases of lymphoma are sporadic; clustering is suggestive of an infective or immunosuppressive agent and may well not be genetic. Burkitt lymphoma shows a characteristic translocation at the site of the immunoglobulin genes on chromosome 14. The same primary genetic diseases as predispose to leukaemias, such as ataxia telangiectasia, may also be responsible for lymphomas, although this does not apply to Down syndrome. The same reservations about the offspring of ‘cured’ patients apply. Lymphomas may also occur in the X-linked immune deficiencies, notably in X-linked lymphoproliferative disease.
Epstein-Barr virus
Published in Peter M. Lydyard, Michael F. Cole, John Holton, William L. Irving, Nino Porakishvili, Pradhib Venkatesan, Katherine N. Ward, Case Studies in Infectious Disease, 2010
Peter M. Lydyard, Michael F. Cole, John Holton, William L. Irving, Nino Porakishvili, Pradhib Venkatesan, Katherine N. Ward
X-linked lymphoproliferative disease (XLPD) is a rare familial condition affecting young boys and characterized by extreme susceptibility to EBV infection. Primary infection results in a particularly severe form of infectious mononucleosis with a large expansion of infected B cells and T cells infiltrating the organs of the body, especially the liver. Patients with this condition have several abnormalities of the immune system including defects in NK cell activity, overactivity of Th1 cells, and poor Th2 responses leading to overexpansion of CD8+ T cells and overproduction of Th1 inflammatory cytokines and hence macrophage activation and hemophagocytosis. The primary defect has been mapped to a small cytoplasmic protein, SAP, involved in NK and T lymphocyte signaling. In 60% of cases, the disease is fatal. Patients with XLPD generally die of acute liver necrosis or multi-organ failure. Survivors are also at high risk of developing B-cell lymphoma.
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist
Published in Pediatric Hematology and Oncology, 2023
Jutte van der Werff ten Bosch, Eva Hlaváčková, Charlotte Derpoorter, Ute Fischer, Francesco Saettini, Sujal Ghosh, Roula Farah, Delfien Bogaert, Rabea Wagener, Jan Loeffen, Chris M Bacon, Simon Bomken
Immune dysregulation disorders (Group IV) are well known for their increased incidence of (especially EBV-associated) lymphoma. Examples include immune dysregulation disorders associated with lymphoproliferation such as autoimmune lymphoproliferative syndrome (ALPS) and CTLA4 deficiency, as well as disorders associated with susceptibility to EBV infections and hemophagocytic lymphohistiocytosis (HLH) such as X-linked lymphoproliferative disease (XLP), familial HLH syndromes, CD27 and CD70 deficiencies, and CTPS1 deficiency.29–31 HLH itself usually manifests in childhood or adolescence. This disease, has many overlapping features with a spectrum of EBV-induced lymphoproliferative disorders and some genetic subtypes are associated with an increased risk of lymphoma.32
Presentation and diagnosis of autoimmune lymphoproliferative syndrome (ALPS)
Published in Expert Review of Clinical Immunology, 2021
ALPS started as a clinical–pathological disorder with a list of criteria for diagnosis. There are multiple other disorders that present with similar or overlapping phenotypes, and the constellation of lymphadenopathy, organomegaly, and autoimmunity is nonspecific and may be seen in many other conditions: malignancy, primary immunodeficiency including common variable immunodeficiency (CVID), and other lymphoproliferative disorders including Rosai-Dorfman disease, Castleman disease, X-linked lymphoproliferative disease, and Kikuchi-Fujimoto disease [30]. Some immunodeficiencies are considered ALPS-like and have been identified in subsets of patients with ALPS-U as they continued to be studied further including RALD, CEDS, FADD deficiency, PI3CTLA4 or homozygous LOF variants in LRBA), gain of function STAT3 or STAT1 variants, and PRKCD deficiency (Table 3). Children with Evans syndrome (ES: two or more sequential or simultaneous autoimmune cytopenias) are another subgroup of patients who may subsequently be diagnosed (molecularly) with ALPS or clinically with CVID, SLE, or other underlying immune dysregulation. This subgroup of patients has a high prevalence of ALPS, and in some studies up to one third of children with ES fulfill criteria for ALPS (although not all of these children have molecularly confirmed diagnoses) [31,32]. Finally, some patients with familial hemophagocytic lymphohistocytosis (HLH) may present with an overlapping phenotype to ALPS, although the management is quite different and differentiation is important [13,30].
Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis following Cyclosporine for Uveitis
Published in Ocular Immunology and Inflammation, 2020
HLH is typically associated with infection, malignancy or immune suppression.1 Optic disc edema, retinal hemorrhage, perivenous white patches, or retinal changes resembling Vogt-Koyanagi-Harada disease have been reported in patients with HLH.4 Previous lesions were primarily reported at the posterior pole. However, our patient showed inferior exudative retinal detachment, accompanied by vitreous inflammation. We speculate that these symptoms might indicate a prodromal stage of HLH, which resulted from infiltration of histocytes. Since corticosteroid had moderated effect on this uveitis, CsA was added to control ocular inflammation. CsA is known for inhibition of T lymphocytes and suppression of the hyperinflammatory process associated with HLH.1 To our knowledge, the fulminant HLH after oral application of CsA has not been reported. Nevertheless, the possibility that EBV-associated HLH incurred by immune suppression state should not be excluded. This patient had acute drug-induced liver injury, although the common side effects of CsA are renal toxicity and neurotoxicity while hepatic toxicity and myelotoxicity are rare during the application of CsA.5 The blood concentration of CsA was under the level of toxicity, however, the concentration was taken one day after stopping CsA and might affect the result. Moreover, primary HLH such as X-linked lymphoproliferative disease, characterized by a high susceptibility to severe infection with EBV and inherited in an X-linked recessive manner1, cannot be excluded in this patient. It is a pity that the patient did not take genetic mutation tests for primary HLH because of economic reasons.