%0 Journal Article
%T High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia
%A Anna F£¿hr
%A Helena Valta
%A Merja Kajosaari
%A Mervi Taskinen
%A Outi M£¿kitie
%A Paula Klemetti
%A Sanna Toiviainen-Salo
%A Svetlana Kostjukovits
%J Journal of Allergy and Clinical Immunology
%D 2017
%R 10.1016/j.jaci.2016.07.023
%X Cartilage-hair hypoplasia (CHH, MIM #250250) is a metaphyseal chondrodysplasia with
variable immunodeficiency and increased risk of malignancy. We previously showed that
in patients with CHH with chronic respiratory symptoms, the prevalence of bronchiectasis
(BE) is 52%.1 The prevalence of BE and the contributing risk factors in the overall
CHH population remain unknown. High-resolution computed tomography (HRCT) is the criterion
standard investigation for assessing BE; however, radiation exposure is a concern.
%U https://www.jacionline.org/article/S0091-6749(16)30853-3/abstract