Abstract
X-linked agammaglobulinemia (XLA) should be suspected in a young boy with recurrent respiratory infections or invasive bacterial infections, very low or undetectable immunoglobulin serum levels and very low or absent CD19+ B cells.
XLA is due to defects in a signal transduction molecule called Btk, leading to intramedullary block of B-cell differentiation.
Molecular study to identify the mutation in the BTK gene is recommended to confirm the diagnosis.
Immunoglobulin replacement therapy is the cornerstone of treatment for XLA, together with prompt antibiotic treatment of the infections. Gene therapy remains a more distant goal.
XLA patients are essentially males, while females may be healthy carriers. De novo mutations are relatively frequent (~60%)
Despite immunoglobulin replacement therapy, respiratory tract infections remains the most prominent clinical problem and chronic lung disease is a major complication of XLA
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Pulvirenti, F., Quinti, I. (2019). Fever and Sleepiness. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_4
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