Diseases of Immune System

Stable Identifier
R-HSA-5260271
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
Diseases of Immune System
Click the image above or here to open this pathway in the Pathway Browser
The immune system is a complex network of the biological processes that provide defense mechanisms during infection or in response to an intrinsic danger signal. Compromised immune response may present itself as either overactivity or underactivity of the immune system leading to a broad spectrum of clinical phenotypes that can be categorized into four main groups - autoimmunity, immunodeficiency (ID) with a greater susceptibility to infectious diseases, hypersensitivity to compounds that are usually not harmful, and malignancy. Several host conditions may cause dysfunctional immunity. Among them are inherited and somatic mutations found in the components of immune signaling pathways. In addition to genetic defects, infection with pathogens such as human immunodeficiency virus (HIV), or interaction of immune cells with immunosuppressive drugs result in non-genetic immunodeficiencies. Age-associated alterations in immunity may also contribute to pathogenesis of immunodeficiency .

This Reactome module represents selected defects of the immune system and provides a short description of their clinical phenotypes. This module also describes functional features of defective molecules by both providing a published source for experimental functional analysis data and linking to the corresponding normal process within the Reactome database.

Literature References
PubMed ID Title Journal Year
  Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, third edition

Ochs, HD, Smith, CIE, Puck, JM

  2013
24795713 Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Franco, JL, Gaspar, HB, Holland, SM, Klein, C, Nonoyama, S, Ochs, HD, Oksenhendler, E, Picard, C, Puck, JM, Sullivan, K, Tang, ML

Front Immunol 2014
22165913 Primary immunodeficiency

McCusker, C, Warrington, R

Allergy Asthma Clin Immunol 2011
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
Mondo
Authored
Shamovsky, V  (2014-05-21)
Reviewed
D'Eustachio, P  (2014-09-06)
Matthews, L  (2025-08-05)
Created
Shamovsky, V  (2014-02-07)
Cite Us!