A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections
Journal
Seminars in Immunopathology
Journal Volume
38
Journal Issue
2
Pages
199-212
Date Issued
2016
Author(s)
Holland S.M.
Abstract
Identification of the genetic factors predisposing to mycobacterial infections has been a subject of intense research activities. Current knowledge of the genetic and immunological basis of susceptibility to mycobacteria largely comes from natural human and experimental models of Bacille Calmette Gu?rin (BCG) and nontuberculous mycobacterial infections. These observations support the central role of the IL-12/IFN-γ pathway in controlling mycobacterial infection. In this review, we discuss the knowledge that associates both simple and complex inheritance with susceptibility to mycobacterial diseases. We place a special emphasis on monogenic disorders, since these clearly pinpoint pathways and can adduce mechanism. We also describe the clinical, immunological, and pathological features that may steer clinical investigation in the appropriate directions. ? 2016, Springer-Verlag Berlin Heidelberg.
SDGs
Other Subjects
gamma interferon; gamma interferon receptor 1; interferon consensus sequence binding protein; interleukin 12; interleukin 12 receptor beta1; interleukin 12p40; STAT1 protein; transcription factor GATA 2; gamma interferon; interleukin 12; adaptive immunity; genetic analysis; genetic association; genetic code; genetic regulation; granulomatosis; human; infection sensitivity; innate immunity; lung infection; mixed infection; mycobacteriosis; nonhuman; priority journal; prognosis; Review; signal transduction; animal; complication; deficiency; gene deletion; genetic association study; genetic disorder; genetic predisposition; genetics; granuloma; host pathogen interaction; immune system; immunology; metabolism; microbiology; mycobacteriosis; Mycobacterium; pathology; risk factor; Animals; Genetic Association Studies; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Granuloma; Host-Pathogen Interactions; Humans; Immune System; Interferon-gamma; Interleukin-12; Mycobacterium; Mycobacterium Infections; Risk Factors; Sequence Deletion; Signal Transduction
Publisher
Springer Verlag
Type
review