Ig beta deficiency in humans

Abstract

Purpose of review: To describe novel immunological and molecular findings regarding early B cell development arrest resulting in autosomal recessive agammaglobulinemia.

Recent findings: Recently two different groups identified mutations in Ig beta, a component of the pre-B cell receptor, responsible for agammaglobulinemia in humans. These are the first two patients ever described with mutations in Ig beta.

Summary: These novel findings broaden the spectrum of genetic defects underlying this rare condition. This novel cause of agammaglobulinemia not only sheds light into early B cell development in humans but also sets the basis for potential alternative therapeutic approaches such as gene therapy.