X-linked agammaglobulinemia: a review of literature and a case report

Abstract

X-linked agammaglobulinemia (XLA), or Bruton’s agammaglobulinemia, – is a primary immunodeficiency, caused by defects in the BTK gene encoding Bruton’s tyrosine kinase. The BTK defects lead to the arrest of B-lymphocyte development and, as a result, agammaglobulinemia. The disease manifests with recurrent infections starting in infancy. The gold standard of XLA treatment – intravenous or subcutaneous immunoglobulin substitution – proved effective in various multicenter studies and increases the quality of life of XLA patients. However, there are cases of delayed disease verification, and untimely delayed treatment, which leads to severe, recurrent infections and life-threatening conditions. We present a review of the literature and case report of an XLA patient with ecthyma gangrenosum. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.