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IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
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IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
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Journal Article
IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
2011
Overview
Monocytes and dendritic cells regulate adaptive and innate immunity. This study uncovers an association between mutations in the gene encoding interferon regulatory factor 8 and deficiency of dendritic cells and monocytes in the context of disseminated bacille Calmette–Guérin disease.
The discovery of human primary immunodeficiencies that affect the development of granulocytes, B cells, and T cells has been instrumental in defining the contribution of these cell types to protective immunity.
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Monocytes, macrophages, and dendritic cells — all mononuclear phagocytes — have essential functions in both innate and acquired immunity. These cells initially recognize and engulf invading microbes, produce proinflammatory cytokines (e.g., interleukin-12), and process antigens for presentation to naive T cells, which consequently secrete various lymphokines (e.g., interferon-γ).
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On activation by cytokines secreted by T cells, mononuclear phagocytes destroy ingested microorganisms. There are no known genetic causes . . .
Publisher
Massachusetts Medical Society
Subject
/ Adult
/ Age
/ Animals
/ Bacillus Calmette-Guerin vaccine
/ BCG
/ Biological and medical sciences
/ Biopsy
/ Children
/ Councils
/ Dendritic Cells - immunology
/ Disease
/ DNA
/ Female
/ Grants
/ Humans
/ Immunodeficiencies. Immunoglobulinopathies
/ Immunologic Deficiency Syndromes - genetics
/ Infant
/ Interferon regulatory factor
/ Interferon Regulatory Factors - deficiency
/ Interferon Regulatory Factors - genetics
/ Interleukin-12 - biosynthesis
/ Leukocytes, Mononuclear - immunology
/ Male
/ Mutation
/ Mycobacterium Infections - genetics
/ Mycobacterium Infections - immunology
/ Pedigree
