Revisiting X-linked agammaglobulinemia

• DOI: 10.70962/jhi.20250020
• Publication Date: 2025-04-28T14:59:13Z
• Authors: Hirokazu Kanegane; Kay Tanita; Madoka Nishimura; Dan Tomomasa; Kento Inoue; Toru Kanamori; Akira Nishimura; Hans D. Ochs
• Keywords: X-linked agammaglobulinemia

Discovered >70 years ago by Ogden Bruton, X-linked agammaglobulinemia (XLA), characterized recurrent bacterial infections, hypo/agammaglobulinemia, and peripheral blood B-cell deficiency, is among the best-established inborn errors of immunity (IEIs) one most well-documented single types IEIs, incidence which estimated to be between 1:100,000 1:200,000. However, although pathogenesis XLA well understood, several issues remain open for discussion. In this review, we describe unresolved issues, including noncoding BTK variants, contiguous deletion syndrome, Helicobacter infection, noninfectious neurodegeneration, renal involvement, malignancies. The primary treatment XLA, immunoglobulin replacement therapy, administered either intravenously or subcutaneously, has remained unchanged since its discovery. Allogeneic hematopoietic cell transplantation been successful in some patients, but there are still few reports. it may considered as a option future. Given that common resolving these priority.