Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia an Italian multicenter study

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia : an Italian multicenter study

A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years...

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Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 104(2002), 3 vom: 01. Sept., Seite 221-30
1. Verfasser: Plebani, Alessandro (VerfasserIn)
Weitere Verfasser: Soresina, Annarosa, Rondelli, Roberto, Amato, Giorgio M, Azzari, Chiara, Cardinale, Fabio, Cazzola, Gianantonio, Consolini, Rita, De Mattia, Domenico, Dell'Erba, Grazia, Duse, Marzia, Fiorini, Maurilia, Martino, Silvana, Martire, Baldassarre, Masi, Massimo, Monafo, Virginia, Moschese, Viviana, Notarangelo, Luigi D, Orlandi, Paola, Panei, Pietro, Pession, Andrea, Pietrogrande, Maria C, Pignata, Claudio, Quinti, Isabella, Ragno, Vanda, Rossi, Paolo, Sciotto, Antonella, Stabile, Achille, Italian Pediatric Group for XLA-AIEOP
Format: Aufsatz
Sprache:English
Veröffentlicht: 2002
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Multicenter Study Research Support, Non-U.S. Gov't Immunoglobulins, Intravenous Protein-Tyrosine Kinases EC 2.7.10.1 Agammaglobulinaemia Tyrosine Kinase EC 2.7.10.2 BTK protein, human
Beschreibung
Zusammenfassung:A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG
Beschreibung:Date Completed 04.11.2002
Date Revised 08.04.2022
published: Print
CommentIn: Clin Immunol. 2002 Sep;104(3):201-3. - PMID 12217328
Citation Status MEDLINE
ISSN:1521-7035