Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study.
A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out. The mean age at the time of diagnosis was 4.4 years; mean duration of follow-up was 10.4 years. Lung and skin infections were the most frequent manifestations both prior to diagnosis and during follow-up. Aspergillus species was the first cause of infection and of death in our cohort. The mortality rate was 13%. Long term prophylaxis with IFNgamma did not significantly change the rate of total infection per patient-year compared to controls (p=0.07). Our data provide clear evidence that protocols of continuing intensive surveillance and monitoring of compliance with anti-infective regimens may significantly improve the quality of life and long-term survival in patients with CGD. No evidence justifying long-term prophylaxis with IFNgamma was obtained.
Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, Italy. baldo.martire@bioetaev.uniba.it
Baldassarre
B
Martire
Roberto
R
Rondelli
Annarosa
A
Soresina
Claudio
C
Pignata
Teresa
T
Broccoletti
Andrea
A
Finocchi
Paolo
P
Rossi
Marco
M
Gattorno
Marco
M
Rabusin
Chiara
C
Azzari
Rosa M
RM
Dellepiane
Maria C
MC
Pietrogrande
Antonino
A
Trizzino
Paolo
P
Di Bartolomeo
Silvana
S
Martino
Luigi
L
Carpino
Fausto
F
Cossu
Franco
F
Locatelli
Rita
R
Maccario
Paolo
P
Pierani
Maria C
MC
Putti
Achille
A
Stabile
Luigi D
LD
Notarangelo
Alberto G
AG
Ugazio
Alessandro
A
Plebani
Domenico
D
De Mattia
D000890:Anti-Infective Agents / Q000627:therapeutic use; D000935:Antifungal Agents / Q000627:therapeutic use; D000998:Antiviral Agents / Q000627:therapeutic use; D001424:Bacterial Infections / Q000209:etiology* / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis / Q000401:mortality; D006801:Humans; D007223:Infant; D007371:Interferon-gamma / Q000627:therapeutic use; D007558:Italy; D017964:Itraconazole / Q000627:therapeutic use; D053208:Kaplan-Meier Estimate; D008297:Male; D012189:Retrospective Studies; D016896:Treatment Outcome; D015662:Trimethoprim, Sulfamethoxazole Drug Combination / Q000627:therapeutic use
D000890:Anti-Infective Agents; D000935:Antifungal Agents; D000998:Antiviral Agents; D017964:Itraconazole; D015662:Trimethoprim, Sulfamethoxazole Drug Combination; D007371:Interferon-gamma