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

Saeed F. Tafti, Payam Tabarsi, Nahal Mansouri, Mehdi Mirsaeidi, Mohamad A. Motazedi Ghajar, Shirin Karimi, Hossain M. Najar, Davood Mansouri

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)291-296
Number of pages6
JournalJournal of Clinical Immunology
Volume26
Issue number3
DOIs
StatePublished - May 2006
Externally publishedYes

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Keywords

  • CGD
  • Familial
  • Outcome
  • Pattern of inheritance

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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