NKT-dependent B-cell activation in Gaucher disease

Salio, Mariolina; Cerundolo, Vincenzo

doi:10.1182/blood-2014-12-617514

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…This initial trigger, together with signals from B lymphocytes, drive the activation and differentiation of type II NKT cells, that promote differentiation of B lymphocytes into plasma cells, with associated gammopathy and production of glucosylceramide and glucosylsphingosine specific IgG auto-antibodies. [20] Recently, Pandey has pointed to an unexpected player in GD: the complement system. [23] He showed that glucosylceramide-immunocomplex leads to classical pathway activation, eventually leading to systemic C5 cleavage and C5a generation.…”

Section: Study Reasons and Objectivesmentioning

confidence: 99%

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease

Miano

Madeo

Cappelli

et al. 2020

The Journal of Allergy and Clinical Immunology: In Practice

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Section: Study Reasons and Objectivesmentioning

confidence: 99%

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease

Miano

Madeo

Cappelli

et al. 2020

The Journal of Allergy and Clinical Immunology: In Practice

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The assembly of glycosphingolipid determines their immunomodulatory effect: A novel method for structure-based design of immunotherapy

Adar

Lankalapalli

Bittman

et al. 2020

Cellular Immunology

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Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

Bonesteele

Gargus

Curtin

et al. 2020

Molecular Genetics and Metabolism Reports

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Gaucher disease type 1 (GD1) is the most common lysosomal storage disease and affects nearly 1 in 40,000 live births. In addition, it is the most common genetic disorder in the Ashkenazi Jewish population with phenotypic variation presenting in early childhood to asymptomatic nonagenarians. There have been a number of studies showing an increased risk of certain malignancies in patients, especially non- Hodgkin's lymphoma (NHL) and multiple myeloma. We describe a 66-year-old Ashkenazi Jewish male with GD1 who was first started on enzyme replacement therapy (ERT) with imiglucerase for GD1 at age 57 years, followed a year later by the diagnosis of diffuse large b-cell non-Hodgkin's lymphoma (DLBCL). He was treated with R-CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone, plus the monoclonal antibody rituximab), however relapsed and developed myelodysplasia necessitating an allo-stem-cell transplantation but succumbed to severe graft vs. host disease. In addition, we also describe a 38-year-old Ashkenazi Jewish male with GD1 who was diagnosed with DLBCL at age 22 years with Gaucher disease diagnosed on pre-treatment bone marrow biopsy which was confirmed by enzyme assay and genotyping. At age 24 years, he was started on ERT with imiglucerase and at age 35 years, he switched to eliglustat. He has remained in remission from the lymphoma. A meta-analysis of the literature will be elaborated upon and we will discuss the relationship of GD1 to NHL and discuss more recent information regarding lyso-GL1 and the development of NHL and multiple myeloma.

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NKT-dependent B-cell activation in Gaucher disease

Cited by 3 publications

References 11 publications

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease

The assembly of glycosphingolipid determines their immunomodulatory effect: A novel method for structure-based design of immunotherapy

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

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