domingo, 11 de mayo de 2014

Primary immunodeficiency diseases: an update o... [Front Immunol. 2014] - PubMed - NCBI

Primary immunodeficiency diseases: an update o... [Front Immunol. 2014] - PubMed - NCBI



Birth Defects & Child Health



 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. eCollection 2014.

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

Abstract

We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.

KEYWORDS:

IUIS, classification, genetic defects, genotype, primary immunodeficiencies

PMID:
 
24795713
 
[PubMed] 
PMCID:
 
PMC4001072
 
Free PMC Article

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