ICON: the early diagnosis of congenital immunodeficiencies

J Clin Immunol. 2014 May;34(4):398-424. doi: 10.1007/s10875-014-0003-x. Epub 2014 Mar 12.

Abstract

Primary immunodeficiencies are intrinsic defects in the immune system that result in a predisposition to infection and are frequently accompanied by a propensity to autoimmunity and/or immunedysregulation. Primary immunodeficiencies can be divided into innate immunodeficiencies, phagocytic deficiencies, complement deficiencies, disorders of T cells and B cells (combined immunodeficiencies), antibody deficiencies and immunodeficiencies associated with syndromes. Diseases of immune dysregulation and autoinflammatory disorder are many times also included although the immunodeficiency in these disorders are often secondary to the autoimmunity or immune dysregulation and/or secondary immunosuppression used to control these disorders. Congenital primary immunodeficiencies typically manifest early in life although delayed onset are increasingly recognized. The early diagnosis of congenital immunodeficiencies is essential for optimal management and improved outcomes. In this International Consensus (ICON) document, we provide the salient features of the most common congenital immunodeficiencies.

Publication types

  • Review

MeSH terms

  • Autoimmunity
  • B-Lymphocytes / drug effects
  • B-Lymphocytes / immunology
  • B-Lymphocytes / pathology
  • Complement System Proteins / genetics
  • Complement System Proteins / immunology
  • Early Diagnosis
  • Gene Expression
  • Humans
  • Immunologic Deficiency Syndromes / classification
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / therapy
  • Immunologic Factors / therapeutic use
  • Infant, Newborn
  • Mutation
  • Neonatal Screening / methods
  • Neonatal Screening / statistics & numerical data*
  • Opportunistic Infections / diagnosis
  • Opportunistic Infections / immunology
  • Opportunistic Infections / prevention & control*
  • Signal Transduction
  • T-Lymphocytes / drug effects
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology
  • Toll-Like Receptors / genetics
  • Toll-Like Receptors / immunology
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / genetics
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / immunology

Substances

  • Immunologic Factors
  • Toll-Like Receptors
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
  • Complement System Proteins