Introduction:

Bruton's Agammaglobulinemia is a primary immunodeficiency (PID) caused by a mutation in the gene that encodes Bruton's tyrosine kinase (BTK). It is suspected mainly in men with frequent respiratory tract infections and has, among other complications, tumors, mainly lymphoproliferative. Autosomal recessive agammaglobulinemias with similar clinical characteristics have been reported in both sexes.

Objective:

To present the first pediatric case reported in Cuba, with a diagnosis of Burkitt's lymphoma associated with PID and that also used combined immunoglobulin replacement and antitumor therapy.

Case report:

2-year-old male diagnosed with Bruton's disease. With the replacement treatment with intravenous immunoglobulin (Intacglobin), he maintained three years without serious infections. At 5 years of age, he presented Burkitt's lymphoma, treated with polychemotherapy according to the AEIOP scheme, associating Rituximab. Although do not have molecular biology detection of the BTK gene mutation, the decrease of CD19 + B cells to below 2% and the absent values of IgG, IgA and IgM allowed the diagnosis.

Conclusion:

Antitumor treatment and intravenous immunoglobulin replacement therapy coexisted with satisfactory clinical results. The patient remains in good general condition.

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