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Immunodeficiency Diseases

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency disorders...

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A High Resolution Method to Monitor Phosphorylation-dependent Activation of IRF3

A High Resolution Method to Monitor Phosphorylation-dependent Activation of IRF3

Published on: January 24, 2016

IRF8 mutations and human dendritic-cell immunodeficiency.

Sophie Hambleton¹, Sandra Salem, Jacinta Bustamante

¹Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, United Kingdom.

The New England Journal of Medicine

|April 29, 2011

Summary

This summary is machine-generated.

Mutations in interferon regulatory factor 8 (IRF8) cause primary immunodeficiencies affecting monocyte and dendritic cell development. These findings highlight IRF8

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Area of Science:

Immunology
Genetics
Cell Biology

Background:

Primary immunodeficiencies impact host defense against infection.
Disseminated bacille Calmette-Guérin (BCG) infection can indicate severe combined immunodeficiency.
The cause of disseminated BCG disease remains unexplained in many individuals.

Observation:

Studied an infant with severe immunodeficiency and disseminated BCG disease.
Examined two individuals with a history of disseminated BCG disease.
Characterized monocyte and dendritic cell populations and sequenced candidate genes.

Findings:

Identified two mutations in interferon regulatory factor 8 (IRF8) causing disease.
K108E mutation led to severe immunodeficiency with absent monocytes and dendritic cells.
T80A mutation resulted in milder immunodeficiency with depleted specific dendritic cell subsets.

Implications:

Defines a new class of primary immunodeficiencies affecting mononuclear phagocyte differentiation.
Establishes IRF8's critical role in monocyte and dendritic cell development.
Demonstrates IRF8's importance in antimycobacterial immunity.