Diseases of Immune System

Stable Identifier
Homo sapiens
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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 the dysfunctional immunity. Among them are inherited and somatic mutations found in the components of immune signaling pathways. In addition to genetic defects, infection with pathogen 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 .

The Reactome module represents selected defects of the immune system and provides a short description of their clinical phenotypes. The 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

Puck, JM, Smith, CIE, Ochs, HD

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

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

Front Immunol 2014
22165913 Primary immunodeficiency

McCusker, C, Warrington, R

Allergy Asthma Clin Immunol 2011
as an event of
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
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