Document Detail


From infectious diseases to primary immunodeficiencies.
MedLine Citation:
PMID:  18424331     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The field of primary immunodeficiencies has expanded, thanks to the exploration of novel clinical phenotypes and their connection with morbid genotypes, and the subsequent exploration of new patients who have known primary immunodeficiency-defining clinical phenotypes and their connection with novel morbid genotypes. This two-way process is becoming increasingly active, particularly for patients who have infectious diseases in whom the underlying immunologic and genetic causes remain mostly unexplained. The authors review how the exploration of children who have clinical infectious diseases caused by mycobacteria, pneumococcus, and herpes simplex virus recently led to the description of three new groups of primary immunodeficiencies. These three examples justify the continuation of the genetic exploration of novel infectious phenotypes and novel patients who have infections. This challenging process will eventually reap its rewards, to the benefit of patients and their families.
Authors:
Jacinta Bustamante; Shen-Ying Zhang; Horst von Bernuth; Laurent Abel; Jean-Laurent Casanova
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Immunology and allergy clinics of North America     Volume:  28     ISSN:  0889-8561     ISO Abbreviation:  Immunol Allergy Clin North Am     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-21     Completed Date:  2008-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8805635     Medline TA:  Immunol Allergy Clin North Am     Country:  United States    
Other Details:
Languages:  eng     Pagination:  235-58, vii     Citation Subset:  IM    
Affiliation:
Laboratory of Human Genetics of Infectious Diseases, Institut Nationale de la Santé et de la Recherche Médicale, INSERM U550, 75015 Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Cytokines / immunology,  metabolism*
Encephalitis, Herpes Simplex / genetics*,  immunology,  metabolism,  virology
Genetic Predisposition to Disease
Herpesvirus 1, Human / immunology
Humans
Immunologic Deficiency Syndromes / genetics*,  immunology,  metabolism*
Mycobacterium / immunology
Mycobacterium Infections / genetics*,  immunology,  metabolism,  microbiology
Pneumococcal Infections / genetics*,  immunology,  metabolism,  microbiology
Chemical
Reg. No./Substance:
0/Cytokines

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