| Autoimmunity in primary immune deficiency: taking lessons from our patients. | |
| | |
MedLine Citation:
|
PMID: 21466546 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
The elucidation of the genes leading to selected immune defects has accelerated our understanding of the molecular basis of tolerance in autoimmunity disorders. Mutations in genes of the immune system are known to lead to a catalogue of functional deficits, including loss of activation-induced Fas-mediated apoptosis, an inability to remove self-reactive T and/or B cells and insufficient numbers or functions of regulatory T cells. In most cases, microbial antigen stimulation occurs simultaneously, leading to further inflammatory responses. In each case, probing the molecular pathways involved in these primary immune defects has led to a better understanding of autoimmune diseases in general. While subjects with X-linked agammaglobulinaemia are almost devoid of autoimmune diseases, B cells which are present, but dysfunctional in other defects, lead to a significant incidence of autoimmune disease. Autoimmunity is also particularly common in the antibody deficiency states. Although organ-based autoimmunity also occurs, for unclear reasons the main conditions are immune thrombocytopenia purpura and autoimmune haemolytic anaemia. The common variable immune deficiency subjects most afflicted by these cytopenias are those with specific peripheral blood memory B cell phenotypes. B cells of these subjects have a retained autoimmune potential, lack of somatic hypermutation, profound loss of proliferative potential, accelerated apoptosis and loss of normal Toll-like receptor signalling. Treatment with high-dose immunoglobulin and/or steroids can be helpful, while rituximab provides benefits in the treatment of refractory cytopenias with apparently little risk, even with repeated use, due to ongoing immune globulin therapy. |
| | |
Authors:
|
C Cunningham-Rundles |
Related Documents
:
|
19101756 - Therapeutic effect of anti-vascular endothelial growth factor receptor i antibody in th... 15996076 - Elevated concentrations of monocyte derived cytokines in synovial fluid of children wit... 20187936 - Akt activity protects rheumatoid synovial fibroblasts from fas-induced apoptosis by inh... 21454596 - A novel exopolysaccharide from the biofilm of thermus aquaticus yt-1 induces the immune... 18845626 - The cyclopentenone 15-deoxy-delta 12,14-prostaglandin j(2) delays lipopolysaccharide-in... 12095176 - Effect of (-)-epigallocatechin-3-gallate on respiratory burst of rat macrophages. |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
|
Title: Clinical and experimental immunology Volume: 164 Suppl 2 ISSN: 1365-2249 ISO Abbreviation: Clin. Exp. Immunol. Publication Date: 2011 Jun |
Date Detail:
|
Created Date: 2011-04-06 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0057202 Medline TA: Clin Exp Immunol Country: England |
Other Details:
|
Languages: eng Pagination: 6-11 Citation Subset: IM |
Copyright Information:
|
© 2011 The Author. Clinical and Experimental Immunology © 2011 British Society for Immunology. |
Affiliation:
|
Mount Sinai School of Medicine, Department of Medicine, New York City, NY, USA. charlotte.cunningham-rundles@mssm.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
| Grant Support | |
ID/Acronym/Agency:
|
AI 101093/AI/NIAID NIH HHS; AI-467320/AI/NIAID NIH HHS; AI-48693/AI/NIAID NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Intravenous immunoglobulins in immunodeficiencies: more than mere replacement therapy.
Next Document: The experience of Flebogammadif® in primary immune thrombocytopenia.