نتایج جستجو برای: alps

تعداد نتایج: 5744  

Journal: :Blood 2006
Rita Clementi Annalisa Chiocchetti Giuseppe Cappellano Elisa Cerutti Massimo Ferretti Elisabetta Orilieri Irma Dianzani Marina Ferrarini Marco Bregni Cesare Danesino Valeria Bozzi Maria Caterina Putti Franco Cerutti Angela Cometa Franco Locatelli Rita Maccario Ugo Ramenghi Umberto Dianzani

Mutations decreasing function of the Fas death receptor cause the autoimmune lymphoproliferative syndrome (ALPS) with autoimmune manifestations, spleen/lymph node enlargement, and expansion of CD4/CD8-negative T cells. Dianzani Autoimmune Lymphoproliferative Disease (DALD) is a variant lacking this expansion. Perforin is involved in cell-mediated cytotoxicity and its biallelic mutations cause f...

Journal: :Blood 1997
M C Sneller J Wang J K Dale W Strober L A Middelton Y Choi T A Fleisher M S Lim E S Jaffe J M Puck M J Lenardo S E Straus

Programmed cell death (apoptosis) of activated lymphocytes is critical to immune homeostasis. The cell surface protein Fas (CD95) and its ligand play a pivotal role in regulating lymphocyte apoptosis, and defective expression of either Fas or Fas ligand results in marked over accumulation of mature lymphocytes and autoimmune disease in mice. The results of recent studies suggest that defective ...

1997
Michael C. Sneller Jin Wang Janet K. Dale Warren Strober Lindsay A. Middelton Youngnim Choi Thomas A. Fleisher Megan S. Lim Elaine S. Jaffe Jennifer M. Puck Michael J. Lenardo Stephen E. Straus

Programmed cell death (apoptosis) of activated lymphoan unusual population of CD4CD8 T cells that express the a/b T-cell receptor (TCR). All patients showed defective lymcytes is critical to immune homeostasis. The cell surface protein Fas (CD95) and its ligand play a pivotal role in reguphocyte apoptosis in vitro. Heterozygous mutations of the Fas gene were detected in 8 patients. One ALPS pat...

2009
E. Bartolini P. Claps P. D’Odorico

The European Alps rely on winter precipitation for various needs in terms of hydropower and other water uses. Major European rivers originate from the Alps and depend on winter precipitation and the consequent spring snow melt for their summer base flows. Understanding the fluctuations in winter rainfall in this region is crucially important to the study of changes in hydrologic regime in river...

2016
Swetha Sriram Avni Y Joshi Vilmarie Rodriguez Seema Kumar

The term disappearing HDL syndrome refers to development of severe high density lipoprotein cholesterol (HDL-C) deficiency in noncritically ill patients with previously normal HDL-C and triglyceride levels. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of the immune system due to an inability to regulate lymphocyte homeostasis resulting in lymphadenopathy and hepatosplenomegaly. ...

Journal: :Pediatrics 2013
Elena Boggio Maurizio Aricò Matteo Melensi Irma Dianzani Ugo Ramenghi Umberto Dianzani Annalisa Chiocchetti

This article presents a case report for a child presenting with mixed clinical features of autoimmune lymphoproliferative syndrome (ALPS), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative (XLP) disease. From 6 months, he exhibited splenomegaly and lymphoadenopathy and from 4 years, he showed recurrent severe autoimmune hemocytopenia and sepsislike bouts of fev...

Journal: :Blood 2014
Anne Rensing-Ehl Simon Völkl Carsten Speckmann Myriam Ricarda Lorenz Julia Ritter Ales Janda Mario Abinun Hanspeter Pircher Bertram Bengsch Robert Thimme Ilka Fuchs Sandra Ammann Andrea Allgäuer Karim Kentouche Andrew Cant Sophie Hambleton Claudia Bettoni da Cunha Sebastian Huetker Ingrid Kühnle Arnulf Pekrun Markus G Seidel Michael Hummel Andreas Mackensen Klaus Schwarz Stephan Ehl

Accumulation of CD3(+) T-cell receptor (TCR)αβ(+)CD4(-)CD8(-) double-negative T cells (DNT) is a hallmark of autoimmune lymphoproliferative syndrome (ALPS). DNT origin and differentiation pathways remain controversial. Here we show that human ALPS DNT have features of terminally differentiated effector memory T cells reexpressing CD45RA(+) (TEMRA), but are CD27(+)CD28(+)KLRG1(-) and do not expr...

Journal: :Blood 2014
Elena Boggio Nausicaa Clemente Anna Mondino Giuseppe Cappellano Elisabetta Orilieri Casimiro L Gigliotti Erika Toth Ugo Ramenghi Umberto Dianzani Annalisa Chiocchetti

In autoimmune/lymphoproliferative syndrome (ALPS), defective Fas death receptor function causes lymphadenomegaly/splenomegaly, the expansion of T-cell receptor αβ(+) CD4/CD8 double-negative T cells, and frequent development of hematologic autoimmunity. Dianzani autoimmune lymphoproliferative disease (DALD) has a similar phenotype but lacks the expansion of double-negative T cells. This work sho...

2013
Romina Pace Donald C. Vinh

Background. Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to defects in FAS-mediated apoptosis. ALPS is characterized by childhood onset of chronic lymphadenopathy and splenomegaly, autoimmunity, an expanded population of double-negative T cells (DNTCs), and an increased risk of lymphoma. This propensity for lymphoma in ALPS is not well under...

2002
Monica D. Kohler Donna Eberhart-Phillips

[1] Uppermost mantle seismic structure below the Southern Alps in South Island, New Zealand, is investigated by teleseismic P wave travel time residual inversion. The three-dimensional tomographic images show a near-vertical, high-velocity (2–4%) structure in the uppermost mantle that directly underlies thickened crust along the NNESSW axis of the Southern Alps. The center of the high-velocity ...

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