ICON: The early diagnosis of congenital immunodeficiencies

John Routes, Mario Abinun, Waleed Al-Herz, Jacinta Bustamante, Antonio Condino-Neto, Maria Teresa De La Morena, Amos Etzioni, Eleonora Gambineri, Elie Haddad, Lisa Kobrynski, Francoise Le Deist, Shigeaki Nonoyama, Joao Bosco Oliveira, Elena Perez, Capucine Picard, Nima Rezaei, John Sleasman, Kathleen E. Sullivan, Troy Torgerson

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)398-424
Number of pages27
JournalJournal of Clinical Immunology
Volume34
Issue number4
DOIs
StatePublished - May 2014

Keywords

  • combined immunodeficiencies
  • consensus
  • diagnosis
  • global-consensus
  • Primary immunodeficiencies
  • severe combined immunodeficiencies
  • treatment

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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