Letter to the editor
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

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Cited by (8)

  • Advances and highlights in primary immunodeficiencies in 2017

    2018, Journal of Allergy and Clinical Immunology
    Citation Excerpt :

    Cartilage-hair hypoplasia (CHH) is a skeletal disorder characterized by short-limb dwarfism, sparse hair, variable immune deficiency, and a high risk of infection and neoplasia. Kostjukovits et al52 reported a cohort of 56 Finnish adult and pediatric patients with CHH carrying the g.70A>G mutation in the RNA component of the mitochondrial RNA processing endonuclease (RMRP) gene. Analysis of clinical data showed that 15 (27%) did not have symptoms of immunodeficiency, 26 (47%) had respiratory tract infections, and 15 (27%) had combined immunodeficiency.

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The study was funded by grants to O.M. from the Sigrid Jusélius Foundation, the Academy of Finland, the Folkhälsan Research Foundation, the Helsinki University Hospital Research Funds, and the Swedish Childhood Cancer Foundation, as well as to M.T. from the Helsinki University Hospital Research Funds and the Foundation for Pediatric Research.

Conflicts of interest: P. Klemetti declares receiving a grant from the Foundation for Pediatric Research. M. Taskinen declares receiving a grant from Helsinki University Hospital Research Funds. O. Mäkitie declares receiving individual grants from the Sigrid Juselius Foundation and the Foundation for Pediatric Research; grants from the Folkhälsan Research Foundation and Helsinki University Hospital Research Funds for individual and institutional funding; and payment for lectures including service on speakers' bureaus from Alexion, Ultragenyx. The rest of the authors declare that they have no relevant conflicts of interest.

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