A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.
Adolescent
Adult
Cause of Death
Child
Child, Preschool
Female
Follow-Up Studies
Hair
/ abnormalities
Hirschsprung Disease
/ mortality
Humans
Immunologic Deficiency Syndromes
/ mortality
Infant
Infant, Newborn
Male
Middle Aged
Neoplasms
/ mortality
Osteochondrodysplasias
/ congenital
Primary Immunodeficiency Diseases
/ mortality
Prospective Studies
Risk Factors
Young Adult
RMRP
adult-onset immunodeficiency
cancer
combined immunodeficiency
lung disease
lymphoma
mortality
skeletal dysplasia
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
28
03
2019
accepted:
25
06
2019
entrez:
6
8
2019
pubmed:
6
8
2019
medline:
21
10
2020
Statut:
epublish
Résumé
Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia with combined immunodeficiency, variable clinical course and increased risk of malignancy. Management of CHH is complicated by a paucity of long-term follow-up data, as well as knowledge on prognostic factors. We assessed clinical course and risk factors for mortality in a prospective cohort study of 80 patients with CHH recruited in 1985-1991 and followed up until 2016. For all patients we collected additional health information from health records and from the national Medical Databases and Cause-of-death Registry. The primary outcome was immunodeficiency-related death, including death from infections, lung disease and malignancy. Standardized mortality ratios (SMRs) were calculated using national mortality rates as reference. Half of the patients (57%,
Identifiants
pubmed: 31379817
doi: 10.3389/fimmu.2019.01581
pmc: PMC6646460
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1581Subventions
Organisme : Swedish Childhood Cancer Foundation
Pays : International
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