ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol 2014 May;34(4):398-424
Date
03/13/2014Pubmed ID
24619621DOI
10.1007/s10875-014-0003-xScopus ID
2-s2.0-84901423053 (requires institutional sign-in at Scopus site) 29 CitationsAbstract
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.
Author List
Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson TMESH terms used to index this publication - Major topics in bold
AutoimmunityB-Lymphocytes
Complement System Proteins
Early Diagnosis
Gene Expression
Humans
Immunologic Deficiency Syndromes
Immunologic Factors
Infant, Newborn
Mutation
Neonatal Screening
Opportunistic Infections
Signal Transduction
T-Lymphocytes
Toll-Like Receptors
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins