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

@article{Plebani2002ClinicalIA,
  title={Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study.},
  author={Alessandro Plebani and Annarosa Soresina and Roberto Rondelli and Giorgio M Amato and Chiara Azzari and Fabio Cardinale and Gianantonio Cazzola and Rita Consolini and Domenico De Mattia and Grazia Dell'Erba and Marzia Duse and Maurilia Fiorini and Silvana Martino and Baldassarre Martire and Massimo Masi and Virginia Monafo and Viviana Moschese and Luigi D Notarangelo and Paola Orlandi and Pietro Panei and Andrea Pession and Maria Cristina Pietrogrande and Claudio Pignata and Isabella Quinti and Vanda Ragno and Paolo Rossi and Antonella Sciotto and Achille Stabile},
  journal={Clinical immunology},
  year={2002},
  volume={104 3},
  pages={221-30}
}
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… CONTINUE READING
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