Abstract:
:Antibody deficiencies are the most prevalent forms of primary immunodeficiencies (PIDs). Several disease-causing mutations have been identified to date, but still, the genetic background of most patients remains elusive. During the last 2 years, next generation sequencing has revealed the genetic basis for a number of these disorders. Having as a reference the latest International Union of Immunological Societies classification on PIDs, we present 9 novel genetic defects/mechanisms that are associated with antibody deficiency, affecting either early or late B-cell development. The role of dysregulated autophagy in antibody deficiency is highlighted. The latest advance in this field provides new insights to our understanding of the regulation of antibody production in human B cells.
journal_name
Curr Opin Immunoljournal_title
Current opinion in immunologyauthors
Liadaki K,Sun J,Hammarström L,Pan-Hammarström Qdoi
10.1016/j.coi.2013.06.003subject
Has Abstractpub_date
2013-10-01 00:00:00pages
629-38issue
5eissn
0952-7915issn
1879-0372pii
S0952-7915(13)00104-0journal_volume
25pub_type
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journal_title:Current opinion in immunology
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journal_title:Current opinion in immunology
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journal_title:Current opinion in immunology
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journal_title:Current opinion in immunology
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