Letter to the editorHigh prevalence of bronchiectasis in patients with cartilage-hair hypoplasia
References (15)
- et al.
Deficiency of humoral immunity in cartilage-hair hypoplasia
J Pediatr
(2000) - et al.
Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study
J Allergy Clin Immunol
(2003) - et al.
B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency
Blood
(2011) - et al.
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia
Hum Immunol
(2010) - et al.
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
J Allergy Clin Immunol
(2011) - et al.
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis
J Pediatr
(2008) - et al.
Paediatric reference values for the peripheral T cell compartment
Scand J Immunol
(2012)
Cited by (8)
Advances and highlights in primary immunodeficiencies in 2017
2018, Journal of Allergy and Clinical ImmunologyCitation 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.
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study
2021, Journal of Clinical ImmunologyImmunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management
2020, Scandinavian Journal of ImmunologyA 30-year prospective follow-up study reveals risk factors for early death in cartilage-hair hypoplasia
2019, Frontiers in Immunology
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.