Defect in IgV gene somatic hypermutation in Common Variable Immuno-Deficiency syndrome
نویسندگان
چکیده
منابع مشابه
Somatic hypermutation of IGVH genes and aberrant somatic hypermutation in follicular lymphoma without BCL-2 gene rearrangement and expression.
BACKGROUND Follicular lymphoma is characterized by the t(14;18) translocation resulting in constitutive expression of BCL-2 protein; however approximately 10-15% of follicular lymphomas do not express BCL-2 protein, and a small fraction of these cases does not exhibit translocation of the BCL-2 gene either. It is highly debated whether cases of follicular lymphoma without BCL-2 gene rearrangeme...
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BACKGROUND We describe the first case of a patient with factitious disorder who closely simulated a primary immune deficiency disorder - Common Variable Immune Deficiency (CVID), by surreptitiously ingesting non-steroidal anti-inflammatory agents. CASE DESCRIPTION He was treated with several expensive and potentially dangerous drugs before the diagnosis was established through collateral info...
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Another piece in the hypermutation puzzle Studies with transgenic mice are beginning to define the minimal requirements for the somatic hypermutation of immunoglobulin genes that is critical in the production of high-affinity antibodies. One of the hallmarks of an advanced vertebrate immune system is the ability of the body to remember an invading organism, and to educate itself to respond more...
متن کاملIVIG Anaphylaxis in a patient with Common variable immune deficiency disease (CVID).
Common variable immune deficiency disease (CVID) is one of the most common primary immunodeficiency disorders. It causes reduction of immunoglobulin levels and specific antibodies production and enhancement of recurrent and chronic infections risk, especially respiratory infections and gastrointestinal tracts. Here, we report a case of CVID in a 3 years old male with recurrent hospitalizations ...
متن کاملGenome-wide somatic hypermutation.
DNA mutagenesis is generally considered harmful. Yet activated B cells normally mutate the Ig loci. Because this somatic hypermutation is potentially dangerous, it has been hypothesized that mutations do not occur throughout the genome but instead are actively targeted to the Ig loci. Here we challenge this longstanding and widely accepted hypothesis. We demonstrate that hypermutation requires ...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1998
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.95.22.13135