Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study
A Plebani, A Soresina, R Rondelli, GM Amato… - Clinical …, 2002 - Elsevier
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 …
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 …