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pyoderma gangrenosum/phosphatase
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Seite 1 von 27 Ergebnisse
Aberrant integrin (CR4; alpha(x)beta2; CD11c/CD18) oscillations on neutrophils in a mild form of pyoderma gangrenosum.
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We have previously shown that the beta2 integrins CR3 and CR4 physically and functionally interact with urokinase receptors (uPAR) on neutrophil plasma membranes in an oscillatory fashion. In this study we have analyzed neutrophils from patient SC, a 34 y old African American female, with aberrant
Immunologic and biochemical studies on a patient with pyoderma gangrenosum.
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A patient with pyoderma gangrenosum without associated disease was studied. Routine investigations showed several abnormalities. High ESR, high alkaline phosphatase and glutamyl transferase (gamma-GT) levels, low iron and iron binding capacity, altered protein spectrum, presence of Staphylococcus
Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum.
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BACKGROUND
Pyoderma gangrenosum (PG) is a rare, noninfectious form of skin ulceration, typically accompanied by neutrophilic infiltration. Several familial cases have been reported, suggesting the involvement of genetic factors in the aetiology of PG. Two mutations (A230T and E250Q) in the PSTPIP1
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
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BACKGROUND
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant disease that usually presents in childhood with recurrent sterile arthritis. As the child ages into puberty, cutaneous features develop and arthritis subsides. We report the case of a now
Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.
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To provide a rationale for anti-IL-1 treatment in pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) by defining whether IL-1β secretion is enhanced; requires NLRP3; and correlates with proline-serine-threonine phosphatase-interacting protein 1 mutations, disease activity and/or the
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
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BACKGROUND
Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin).
OBJECTIVE
We sought to characterize the genetic cause and
PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders.
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The proline-, glutamic acid-, serine- and threonine-rich (PEST) family of protein tyrosine phosphatases (PTPs) includes proline-enriched phosphatase (PEP)/lymphoid tyrosine phosphatase (LYP), PTP-PEST, and PTP-hematopoietic stem cell fraction (HSCF). PEP/LYP is a potent inhibitor of T-cell
Alteration in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6/SHP1) may contribute to neutrophilic dermatoses.
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We have found a B2 repeat insertion in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6) in a mouse that developed a skin disorder with clinical and histopathological features resembling those seen in human neutrophilic dermatoses. Neutrophilic dermatoses are a group of
Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature.
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Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare autosomal-dominant autoinflammatory disease of incomplete penetrance and variable expression. PAPA syndrome is the result of a mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins.
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Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome (PAPA syndrome) is an autoinflammatory disease caused by aberrant production of the proinflammatory cytokine interleukin-1. Mutations in the gene encoding proline serine threonine phosphatase-interacting protein-1 (PSTPIP1) have been linked
Proline-serine-threonine phosphatase interacting protein 1 inhibition of T-cell receptor signaling depends on its SH3 domain.
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Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) is an adaptor protein associated with the cytoskeleton that is mainly expressed in hematopoietic cells. Mutations in PSTPIP1 cause the rare autoinflammatory disease called pyogenic arthritis, pyoderma gangrenosum, and acne. We
Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.
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BACKGROUND
Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare hereditary, autosomal dominant, auto-inflammatory disease caused by mutations in the PSTPIP1 gene, which encodes proline-serine-threonine phosphatase interacting protein 1. The fact that PSTPIP1 is
Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.
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To give an overview about the expanding spectrum of autoinflammatory diseases due to mutations in proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) and new insights into their pathogenesis.
In addition to classical pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA)
[Cutaneous ulcers and glycogen storage disease type 1b].
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BACKGROUND
Glycogen storage disease type 1b is a rare disorder caused by 6-glucose-phosphatase transport deficiency. It is characterised primarily by metabolic disorders combined with hypoglycaemia and hyperlactacidaemia and a predisposition to staphylococcal infections associated with polynuclear
Pyrin Modulates the Intracellular Distribution of PSTPIP1.
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PSTPIP1 is a cytoskeleton-associated adaptor protein that links PEST-type phosphatases to their substrates. Mutations in PSTPIP1 cause PAPA syndrome (Pyogenic sterile Arthritis, Pyoderma gangrenosum, and Acne), an autoinflammatory disease. PSTPIP1 binds to pyrin and mutations in pyrin result in
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