The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Abstract

Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate immune system. Since then, advances in genomic techniques have led to the identification of new monogenic disorders and their corresponding signaling pathways. Here we review these monogenic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflammasome-mediated production of the cytokine IL-1β to disorders arising from perturbations in signaling by the transcription factor NF-κB, ubiquitination, cytokine signaling, protein folding, type I interferon production and complement activation, and we further examine their molecular mechanisms. We also explore the overlap among autoinflammation, autoimmunity and immunodeficiency, and pose a series of unanswered questions that are expected to be central in autoinflammatory disease research in the coming decade.

• Authors: Kalpana Manthiram, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner
• Journal: Nature immunology (Nat Immunol) Vol. 18 Issue 8 Pg. 832-842 (Jul 19 2017) ISSN: 1529-2916 [Electronic] United States
• PMID: 28722725 (Publication Type: Journal Article, Review)

Chemical References

• Cytokines
• IL1B protein, human
• Inflammasomes
• Interferon Type I
• Interleukin-1beta
• NF-kappa B

Topics

• Autoimmunity (immunology)
• Complement Activation (immunology)
• Cytokines (immunology)
• Hereditary Autoinflammatory Diseases (genetics, immunology)
• Humans
• Immunity, Innate (immunology)
• Immunologic Deficiency Syndromes (immunology)
• Inflammasomes (immunology)
• Inflammation (immunology)
• Interferon Type I (immunology)
• Interleukin-1beta (immunology)
• NF-kappa B (immunology)
• Protein Folding
• Signal Transduction
• Ubiquitination (immunology)