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Simultaneous detection of Gaucher's disease and renal involvement of non-Hodgkin's lymphoma: the first Asian case report and a review of literature.

Annals of clinical and laboratory science - 1 Jan 2012

Kim Min Jin, Suh Jin-Tae, Lee Hee Joo, Lee Woo-In, Moon Ahrim, Lee Juhie, Kang Seong-Ho, Cho Eun Hae, Oh Seung Hwan, Baek Sun Kyung, Kim Si Young, Park Tae Sung

Abstract excerpt

Gaucher's disease (GD) is a rare autosomal recessive (AR) disorder characterized by a deficiency of glucocerebrosidase (glucosylceramidase, acid β-glucosidase). This enzyme deficiency results in an accumulation of sphingolipids in the cells of GD patients, which may contribute to the dysregulation of the immune system, B-cell dysfunction and expression of specific cytokines such as interleukin (IL) -1, IL-6,...

Topics

Amino Acid Sequence
Asian People
Base Sequence
Biopsy, Needle
Bone Marrow
Female
Gaucher Disease
Glucosylceramidase
Humans
Kidney

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphoma, Non-Hodgkin

Middle Aged

Molecular Sequence Data

Mutation

Source

Identifiers

PMID: 22964618

Genes

TNF

Variants

Provenance

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