From Infectious Diseases to Primary Immunodeficiencies - 13/08/11

Doi : 10.1016/j.iac.2008.01.009

Jacinta Bustamante, MD, PhD ^a,^b, Shen-Ying Zhang, MD, PhD ^a,^b, Horst von Bernuth, MD ^a,^b, Laurent Abel, MD, PhD ^a,^b, Jean-Laurent Casanova, MD, PhD ^a,^b,^c,^⁎
^a Laboratory of Human Genetics of Infectious Diseases, Institut Nationale de la Santé et de la Recherche Médicale, INSERM U550, 75015 Paris, France
^b University Paris René Descartes, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France
^c Pediatric Hematology Immunology Unit, Necker Enfants Malades Hospital, 75015 Paris, France

Corresponding author. University Paris René Descartes, Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France.

Abstract

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.

Le texte complet de cet article est disponible en PDF.

Plan

Mendelian susceptibility to mycobacterial diseases

Mendelian predisposition to invasive pneumococcal disease

Mendelian predisposition to herpes simplex encephalitis

Summary

This work was supported by grants from INSERM, ANR, University Paris René Descartes, the BNP-Paribas Foundation, the March of Dimes, the Dana Foundation, the Schlumberger Foundation, EU grants QLK2-CT-2002-00846 and NEOTIM EEA05095KKA, the Deutsche Forschungsgemeinschaft. Jean-Laurent Casanova is an International Scholar of the Howard Hughes Medical Institute. All authors contributed equally to this article.