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.
Martire
Baldassarre
B
Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, Italy. baldo.martire@bioetaev.uniba.it
Rondelli
Roberto
R
Soresina
Annarosa
A
Pignata
Claudio
C
Broccoletti
Teresa
T
Finocchi
Andrea
A
Rossi
Paolo
P
Gattorno
Marco
M
Rabusin
Marco
M
Azzari
Chiara
C
Dellepiane
Rosa M
RM
Pietrogrande
Maria C
MC
Trizzino
Antonino
A
Di Bartolomeo
Paolo
P
Martino
Silvana
S
Carpino
Luigi
L
Cossu
Fausto
F
Locatelli
Franco
F
Maccario
Rita
R
Pierani
Paolo
P
Putti
Maria C
MC
Stabile
Achille
A
Notarangelo
Luigi D
LD
Ugazio
Alberto G
AG
Plebani
Alessandro
A
De Mattia
Domenico
D
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