paraproteinemias/protease

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Low frequency of PIM3 gene in patients with monoclonal gammopathies.

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The distribution of PI (protease inhibitor) phenotypes and PI M subtypes was studied in 200 patients with monoclonal gammopathies and 320 healthy blood donors by isoelectric focusing in thin-layer polyacrylamide gels, pH range 4-5. The distribution of PI phenotypes and gene frequencies in the

Low-dosage intravenous immunoglobulin in the management of a patient with acquired von Willebrand syndrome associated with monoclonal gammopathy of undetermined significance.

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We report herein the case of a 69-year-old Japanese man with acquired von Willebrand syndrome associated with monoclonal gammopathy of undetermined significance who developed IgG1-kappa antibodies against von Willebrand factor (VWF). The patient was urged to undergo tooth extractions because of

Sumoylated HSP90 is a dominantly inherited plasma cell dyscrasias risk factor.

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Posttranslationally modified proteins serve as autoimmunogenic targets in a wide spectrum of autoimmune diseases. Here, we identified a posttranslationally modified paraprotein target (paratargs) in monoclonal gammopathies of undetermined significance (MGUS), multiple myelomas (MM), and

Myelin-associated glycoprotein in demyelinating disorders.

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The myelin-associated glycoprotein (MAG) is a 100-kD, integral membrane glycoprotein that is a member of the immunoglobulin superfamily and appears to function in interactions between myelin-forming cells (both oligodendrocytes and Schwann cells) and the axolemma. Its early loss in the development

The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis.

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BACKGROUND Systemic mastocytosis is characterized by mast cell infiltration of bone marrow and tissues in the absence of identified circulating bone marrow-derived progenitors. A 58-year-old man was first seen with aggressive systemic mastocytosis manifested by urticaria pigmentosa,

Polymorphism of alpha-1-antitrypsin in hematological malignancies.

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Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage

Membranoproliferative glomerulonephritis with masked monotypic immunoglobulin deposits.

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The diagnosis of membranoproliferative glomerulonephritis (MPGN) has recently undergone change from an electron microscopy-based classification scheme to one based largely on immunofluorescence findings. This change is due to the recognition that many of these cases are driven by abnormalities of

Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients.

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Fifty-seven cases of Ig light chain-associated Fanconi syndrome (FS) have been reported so far, mostly as isolated reports. The pioneering work by Maldonado and associates (35), who reviewed the first 17 cases in 1975, led to the unifying concept that patients with FS and Bence Jones proteinuria

The Janus faces of acquired angioedema: C1-inhibitor deficiency, lymphoproliferation and autoimmunity.

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Several clinical and biological features of lymphoproliferative diseases have been associated with an increased risk of developing autoimmune manifestations. Acquired deficiency of C1-inhibitor (C1-INH) (AAE) is a rare syndrome clinically similar to hereditary angioedema (HAE) characterized by local

The acquired deficiency of C1-inhibitor: lymphoproliferation and angioedema.

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Acquired deficiency of C1 inhibitor (C1-INH) with angioedema symptoms (acquired angioedema, AAE) is characterized by local increase in vascular permeability (angioedema) of the skin and the gastrointestinal and oro-pharyngo-laryngeal mucosa. The mediator of symptoms is bradykinin, a potent

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