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Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13.

08:00 EDT 15th May 2018 | BioPortfolio

Summary of "Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13."

Patients suffering from congenital thrombotic thrombocytopenic purpura (cTTP) have a deficiency in ADAMTS13 due to mutations in their ADAMTS13 gene.

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Journal Details

This article was published in the following journal.

Name: European journal of haematology
ISSN: 1600-0609
Pages:

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PubMed Articles [9272 Associated PubMed Articles listed on BioPortfolio]

Platelet rescue by macrophage depletion in obese ADAMTS13 deficient mice at risk for thrombotic thrombocytopenic purpura.

Thrombotic thrombocytopenic purpura (TTP) is caused by the absence of ADAMTS13 activity. Thrombocytopenia is presumably related to the formation of microthrombi rich in von Willebrand Factor (VWF) and...

Thrombotic Thrombocytopenic Purpura in a Child Treated for Acute Lymphoblastic Leukemia: Case Report and Review of Literature.

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by deficiency of von Willebrand factor-cleaving protease ADAMTS13. Large von Willebrand multimer formation and intravas...

An open conformation of ADAMTS13 is a hallmark of acute acquired thrombotic thrombocytopenic purpura.

Acquired thrombotic thrombocytopenic purpura (aTTP) is an autoimmune disorder characterized by absent ADAMTS13 activity and presence of anti-ADAMTS13 autoantibodies. Recently it was shown that ADAMTS1...

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The purpose of this survey was to describe current practices in the U.S. for treatment of acquired Thrombotic Thrombocytopenic Purpura (TTP), compare these with prior U.S. and current Canadian practic...

The Diagnostic Challenge of Acquired Thrombotic Thrombocytopenic Purpura in Children: Case Report and Review of the Literature.

Acquired thrombotic thrombocytopenic purpura (TTP) is a rare disease in children. Despite advances in diagnosis and treatment, acquired TTP remains a challenging disease due to the lack of a simple di...

Clinical Trials [4365 Associated Clinical Trials listed on BioPortfolio]

Prospective Psychometric Evaluation Study of a Patient-reported Outcomes (PRO) Instrument for Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP]

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A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13)

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Safety and Efficacy Study To Compare Uniplas With Cryosupernatant Plasma In Thrombotic Thrombocytopenic Purpura (TTP)

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Medical and Biotech [MESH] Definitions

An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE.

Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms.

Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.

A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections.

An ADAMTS protease that contains eight thrombospondin (TS) motifs. It cleaves VON WILLEBRAND FACTOR to control vWF-mediated THROMBOSIS. Mutations in the ADAMTS13 gene have been identified in familial cases of PURPURA, THROMBOTIC THROMBOCYTOPENIC and defects in ADAMTS13 activity are associated with MYOCARDIAL INFARCTION; BRAIN ISCHEMIA; PRE-ECLAMPSIA; and MALARIA.

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