نتایج جستجو برای: linked agammaglobulinemia

تعداد نتایج: 235961  

2014
Vasco Lavrador Filipa Correia Rita Sampaio Cristina Cândido Maria Sameiro-Faria Laura Marques Conceição Mota

Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family hist...

Journal: :Blood 2004
Hidetoshi Takada Hirokazu Kanegane Akihiko Nomura Ken Yamamoto Kenji Ihara Yasuhiko Takahashi Satoshi Tsukada Toshio Miyawaki Toshiro Hara

We analyzed the cause of agammaglobulinemia in a girl whose father had been diagnosed as having X-linked agammaglobulinemia (XLA). Flow cytometric analysis revealed the lack of peripheral B cells with the block of B-cell differentiation in the stages between pro-B cells and pre-B cells in the bone marrow, and the defect of the Bruton tyrosine kinase (BTK) expression on monocytes. We found a BTK...

2014
Keisuke Sugimoto Hitomi Nishi Tomoki Miyazawa Norihisa Wada Akane Izu Takuji Enya Mitsuru Okada Tsukasa Takemura

BACKGROUND Patients with X-linked agammaglobulinemia (XLA) develop immune-complex induced diseases such as nephropathy only rarely, presumably because their immunoglobulin (Ig) G concentration is low. We encountered a patient with XLA who developed tubulointerstitial nephritis during treatment with intravenous immunoglobulin (IVIG). CASE PRESENTATION A 20-year-old man was diagnosed with XLA 3...

Journal: :Cardiovascular & hematological disorders drug targets 2013
John D Vickery Christie F Michael D Betty Lew

The most common of the primary immunodeficiency diseases are those that involve inadequate antibody production. The characteristic presentation of these disorders is recurrent sinopulmonary infections. An arrest in B cell development at the pre-B cell stage leads to agammaglobulinemia and an insignificant number of B cells. X-linked agammaglobulinemia is the most common of these developmental a...

Journal: :Nucleic acids research 1996
Mauno Vihinen Tsutomu Iwata Christine Kinnon Sau-Ping Kwan Hans D. Ochs Igor Vorechovsky C. I. Edvard Smith

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed...

2015
Burcu Bestas Janne J. Turunen K. Emelie M. Blomberg Qing Wang Robert Månsson Samir EL Andaloussi Anna Berglöf C. I. Edvard Smith

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). Deficiency of BTK leads to a developmental block in B cell differentiation; hence, the patients essentially lack antibody-producing plasma cells and are susceptible to various infections. A substantial portion of the mutations in BTK results in splic...

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