Chronic granulomatous disease with unusual clinical manifestation, outcome, and pattern of inheritance in an Iranian family.

Détails

ID Serval
serval:BIB_30775AC4B8A4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Chronic granulomatous disease with unusual clinical manifestation, outcome, and pattern of inheritance in an Iranian family.
Périodique
Journal of clinical immunology
Auteur⸱e⸱s
Tafti S.F., Tabarsi P., Mansouri N., Mirsaeidi M., Motazedi Ghajar M.A., Karimi S., Najar H.M., Mansouri D.
ISSN
0271-9142 (Print)
ISSN-L
0271-9142
Statut éditorial
Publié
Date de publication
05/2006
Peer-reviewed
Oui
Volume
26
Numéro
3
Pages
291-296
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
CGD is a rare phagocytic disorder manifesting as recurrent, severe bacterial and fungal infections. We describe an Iranian family with eight children, of whom six, five males and one female were diagnosed with CGD resulting in diffuse pulmonary sterile granulomatous lesions. Three died despite multiple courses of antibiotic and antituberculosis medications while three are alive, to date they are asymptomatic but with imaging and pathologic findings of pulmonary granulomatosis, treated with steroids. The parents are healthy. Our report describes the clinical manifestations and outcome in this family. The inheritance pattern suggests an autosomal recessive pattern with high penetrance.
Mots-clé
Adolescent, Adult, Child, Fatal Outcome, Female, Granulomatous Disease, Chronic/genetics, Granulomatous Disease, Chronic/mortality, Granulomatous Disease, Chronic/pathology, Humans, Lung/pathology, Male, Middle Aged, Pedigree
Pubmed
Web of science
Création de la notice
04/02/2021 20:03
Dernière modification de la notice
07/07/2021 6:37
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