Document Detail

Chronic granulomatous disease. Report on a national registry of 368 patients.
MedLine Citation:
PMID:  10844935     Owner:  NLM     Status:  MEDLINE    
A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this uncommon primary immunodeficiency disease and characterize its epidemiologic and clinical features. To date, 368 patients have been registered; 259 have the X-linked recessive form of CGD, 81 have 1 of the autosomal recessive forms, and in 28 the mode of inheritance is unknown. The minimum estimate of birth rate is between 1/200,000 and 1/250,000 live births for the period 1980-1989. Pneumonia was the most prevalent infection (79% of patients; Aspergillus most prevalent cause), followed by suppurative adenitis (53% of patients; Staphylococcus most prevalent cause), subcutaneous abscess (42% of patients; Staphylococcus most prevalent cause), liver abscess (27% of patients; Staphylococcus most prevalent cause), osteomyelitis (25% of patients; Serratia most prevalent cause), and sepsis (18% of patients; Salmonella most prevalent cause). Fifteen percent of patients had gastric outlet obstruction, 10% urinary tract obstruction, and 17% colitis/enteritis. Ten percent of X-linked recessive kindreds and 3% of autosomal recessive kindreds had family members with lupus. Eighteen percent of patients either were deceased when registered or died after being registered. The most common causes of death were pneumonia and/or sepsis due to Aspergillus (23 patients) or Burkholderia cepacia (12 patients). Patients with the X-linked recessive form of the disease appear to have a more serious clinical phenotype than patients with the autosomal recessive forms of the disease, based on the fact that they are diagnosed significantly earlier (mean, 3.01 years of age versus 7.81 years of age, respectively), have a significantly higher prevalence of perirectal abscess (17% versus 7%), suppurative adenitis (59% versus 32%), bacteremia/fungemia (21% versus 10%), gastric obstruction (19% versus 5%), and urinary tract obstruction (11% versus 3%), and a higher mortality (21.2% versus 8.6%).
J A Winkelstein; M C Marino; R B Johnston; J Boyle; J Curnutte; J I Gallin; H L Malech; S M Holland; H Ochs; P Quie; R H Buckley; C B Foster; S J Chanock; H Dickler
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Medicine     Volume:  79     ISSN:  0025-7974     ISO Abbreviation:  Medicine (Baltimore)     Publication Date:  2000 May 
Date Detail:
Created Date:  2000-06-20     Completed Date:  2000-06-20     Revised Date:  2013-06-28    
Medline Journal Info:
Nlm Unique ID:  2985248R     Medline TA:  Medicine (Baltimore)     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  155-69     Citation Subset:  AIM; IM    
Immune Deficiency Foundation, Baltimore, Maryland, USA.
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MeSH Terms
Cause of Death
Child, Preschool
Communicable Diseases / epidemiology,  etiology
Continental Population Groups
Follow-Up Studies
Granulomatous Disease, Chronic / complications,  epidemiology*,  genetics
Middle Aged
Survival Analysis
United States / epidemiology
Grant Support

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