Conclusions
The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different. However, many significant questions remain unanswered. What are the factors that influence the severity of disease and can we manipulate these factors to the benefit of the patient? As an increasing proportion of patients with XLA reach middle age and old age, are there previously unidentified complications that we should be aware of? What are the biological mechanisms by which mutations in Btk result in a failure of B-cell development and are these mechanisms different at different stages of B-cell differentiation? The long term goal of patients with XLA, their families, and the physicians who provide care for them is improved treatment for this disorder. Perhaps it is not unreasonable to hope that we are on the brink of entering the molecular therapeutic are of immunology.
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Conley, M.E., Rohrer, J. & Minegishi, Y. X-linked agammaglobulinemia. Clinic Rev Allerg Immunol 19, 183–204 (2000). https://doi.org/10.1385/CRIAI:19:2:183
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DOI: https://doi.org/10.1385/CRIAI:19:2:183