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ICON: The early diagnosis of congenital immunodeficiencies

Lookup NU author(s): Dr Mario Abinun, Dr Eleonora Gambineri

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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. © 2014 Springer Science+Business Media.


Publication metadata

Author(s): 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 T

Publication type: Review

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2014

Volume: 34

Issue: 4

Pages: 398-424

Print publication date: 01/05/2014

Online publication date: 12/03/2014

Acceptance date: 17/02/2014

ISSN (print): 0271-9142

ISSN (electronic): 1573-2592

Publisher: Springer New York LLC

URL: https://doi.org/10.1007/s10875-014-0003-x

DOI: 10.1007/s10875-014-0003-x

PubMed id: 24619621


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