نتایج جستجو برای: hyper igm syndrome

تعداد نتایج: 655964  

Journal: :The Journal of infectious diseases 2002
Carlos S Subauste

CD40 and CD154 (CD40 ligand) are surface molecules that are central to the cross-talk between T cells and antigen-presenting cells. This article reviews the relevance of CD40-CD154 interaction for regulation of interleukin-12/interferon-gamma production in response to Toxoplasma gondii as an example of an intracellular pathogen. The manner in which defects in CD154 signaling contribute to immun...

Journal: :Cell 2000
Patrick Revy Taro Muto Yves Levy Frédéric Geissmann Alessandro Plebani Ozden Sanal Nadia Catalan Monique Forveille Rémi Dufourcq-Lagelouse Andrew Gennery Ilhan Tezcan Fugen Ersoy Hulya Kayserili Alberto G Ugazio Nicole Brousse Masamichi Muramatsu Luigi D Notarangelo Kazuo Kinoshita Tasuku Honjo Alain Fischer Anne Durandy

The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch ...

Journal: :مجله علوم اعصاب شفای خاتم 0
elham mohammadzadeh shefa neuroscience research center, khatam alanbia hospital, tehran, iran.

in vitro fertilization (ivf) and other assisted reproductive technologies present an enormous hope to couples with fertility difficulties. assisted reproductive technology is one of the risk factors that can result in anxiety in these couples. indeed, ivf-treatments cause a stress, for both the woman and her partner. the different stages of the ivf-procedure can affect the emotional life of the...

2011
Aleksandra Szczawinska-Poplonyk Zdzislawa Kycler Barbara Pietrucha Edyta Heropolitanska-Pliszka Anna Breborowicz Karolina Gerreth

The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities--the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome--have ...

Journal: :Blood 2012
Stephan Borte Ulrika von Döbeln Anders Fasth Ning Wang Magdalena Janzi Jacek Winiarski Ulrich Sack Qiang Pan-Hammarström Michael Borte Lennart Hammarström

Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor...

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