Abstract
X-linked agammaglobulinemia (XLA) should be suspected in boys with recurrent bacterial infections
Immunoglobulin quantification is a simple test for screening patients suspected of agammaglobulinemia
Peripheral blood lymphocytes immunophenotyping showing very low numbers of B cells (<2%) confirms the diagnosis
Different BTK mutations have been described and their identification is important for genetic counselling and prenatal diagnosis.
Rare forms of congenital agammaglobulinemia are autosomal recessive
Immunoglobulin replacement therapy is the gold-standard treatment for XLA
Maintenance of protective IgG serum levels improves life expectancy, quality of life and diminishes the probability of irreversible sequelae [5]
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Marques, L., Branco, L., Vasconcelos, J., Neves, E. (2019). Recurrent Ear Infections and Pneumonia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_7
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DOI: https://doi.org/10.1007/978-3-030-21262-9_7
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