نتایج جستجو برای: linked agammaglobulinemia

تعداد نتایج: 235961  

Journal: :Acta reumatologica portuguesa 2016
P D Carvalho C Costa M Rodrigues M J Salvador J A Pereira da Silva A Malcata

Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a...

2004
Gust Verbruggen Sofie De Backer Dieter Deforce Pieter Demetter Claude Cuvelier Eric Veys Dirk Elewaut

The pathogenic role of B cells in rheumatoid arthritis (RA) has recently gained much interest by the marked clinical responses of anti-CD20 therapy in RA. We describe a patient with X-linked agammaglobulinemia (XLA) who presented with an erosive symmetrical polyarthritis with histological features of RA including formation of a destructive pannus. Furthermore, the patient also developed subcuta...

Journal: :The Journal of allergy and clinical immunology 2009
Luigi D Notarangelo Alain Fischer Raif S Geha Jean-Laurent Casanova Helen Chapel Mary Ellen Conley Charlotte Cunningham-Rundles Amos Etzioni Lennart Hammartröm Shigeaki Nonoyama Hans D Ochs Jennifer Puck Chaim Roifman Reinhard Seger Josiah Wedgwood

More than 50 years after Ogdeon Bruton's discovery of congenital agammaglobulinemia, human primary immunodeficiencies (PIDs) continue to unravel novel molecular and cellular mechanisms that govern development and function of the human immune system. This report provides the updated classification of PIDs that has been compiled by the International Union of Immunological Societies Expert Committ...

Journal: :iranian journal of immunology 0
asghar aghamohammadi department of clinical pediatric immunology, children's medical center hospital, tehran university of medical sciences, tehran, iran ali akbar amirzargar department of immunogenetics, tehran university of medical sciences, tehran, iran nima parvaneh department of clinical pediatric immunology, children's medical center hospital, tehran university of medical sciences, tehran, iran paul marjousef department of immunogenetics, tehran university of medical sciences, tehran, iran mostafa moin department of clinical pediatric immunology, children's medical center hospital, tehran university of medical sciences, tehran, iran abdolhassan farhoudi department of clinical pediatric immunology, children's medical center hospital, tehran university of medical sciences, tehran, iran mehdi yeganeh

background: the b-cell defect in x-linked agammaglobulinemia (xla) is caused by mutations in the gene for bruton's tyrosine kinase (btk). btk mutations result in deficient expression of btk protein in peripheral blood monocytes. methods: using the anti-btk monoclonal antibody (48-2h), a flow cytometric analysis of intra cytoplasmic btk protein expression in monocytes was performed to ident...

Journal: :Clinical immunology 2006
Arnon Broides Wenjian Yang Mary Ellen Conley

No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the clinical phenotype, we examined the age at diagno...

Journal: :Frontiers in bioscience : a journal and virtual library 2000
M Vihinen P T Mattsson C I Smith

X-linked agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase (Btk). Btk along with Tec, Itk, Bmx and Txk belong to a distinct family of protein kinases. These prote...

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