Genetic Causes of Bronchiectasis: Primary Immune Deficiencies and the LungNotarangelo L.D.a, b · Plebani A.b · Mazzolari E.b · Soresina A.b · Bondioni M.P.c
aDivision of Immunology, Children’s Hospital, Harvard Medical School, Boston, Mass., USA; bDepartment of Pediatrics and cDivision of Pediatric Radiology, University of Brescia, Ospedale dei Bambini, Brescia, Italy
Primary immune deficiencies (PID) comprise a heterogeneous group of genetically determined disorders that affect development and/or function of innate or adaptive immunity. Consequently, patients with PID suffer from recurrent and/or severe infections that frequently involve the lung. While the nature of the immune defect often dictates the type of pathogens that may cause lung infection, there is substantial overlap of radiological findings, so that appropriate laboratory tests are mandatory to define the nature of the immune defect and to prompt appropriate treatment. At the same time, the recent identification of a large number of PID-causing genes now allows early, even presymptomatic diagnosis, thus representing an essential tool for prevention of lung damage. This review article describes the most common forms of PID, their cellular and molecular bases, and the associated lung abnormalities, and reports on available treatment.
Prof. Luigi D. Notarangelo, MD, Division of Immunology
Children’s Hospital, Harvard Medical School, Karp Building, 9th floor
Room 09210, 1 Blackfan Circle, Boston, MA 02115 (USA)
Tel. +1 617 919 2276, Fax +1 617 730 0709
Previous articles in this series: 1. Contopoulos-Ioannidis DG, Kouri IN, Ioannidis JPA: Genetic predisposition to asthma and atopy.
Number of Print Pages : 12
Number of Figures : 3, Number of Tables : 2, Number of References : 104
Respiration (International Journal of Thoracic Medicine)
Vol. 74, No. 3, Year 2007 (Cover Date: May 2007)
Journal Editor: Bolliger, C.T. (Cape Town)
ISSN: 0025–7931 (print), 1423–0356 (Online)
For additional information: http://www.karger.com/RES