Article
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.
Genes and immunity - 1 Jun 2007
Ferrari S, Zuntini R, Lougaris V, Soresina A, Sourková V, Fiorini M, Martino S, Rossi P, Pietrogrande M C, Martire B, Spadaro G, Cardinale F, Cossu F, Pierani P, Quinti I, Rossi C, Plebani A
Abstract excerpt
Autosomal-recessive agammaglobulinemia is a rare and heterogeneous disorder, characterized by early-onset infections, profound hypogammaglobulinemia of all immunoglobulin isotypes and absence of circulating B lymphocytes. To investigate the molecular basis of the disease, 23 patients with early-onset disease and no mutations in Bruton tyrosine kinase, the gene responsible for X-linked agammaglobulinemia, were...
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