Periodicidad semestral: flujo continuo.
ISSN - Electrónico: 2661-6947 / DOI: 10.36015 • LILACS BIREME (19784); LATINDEX (20666)
INTRODUCTION. X-linked Agammaglobulinemia is a type of primary immunodeficiency caused by a mutation in the gene that encodes the protein responsible for the maturation process of B lymphocytes, causing the decrease or absence of immunoglobulins in peripheral blood and the predisposition to repeated infectious processes, especially at the level of the respiratory and digestive tracts. Clinical suspicion guides the request for complementary tests sequentially. The treatment consists of lifelong substitute
administration of human immunoglobulin. CASE REPORT. The case of an 8-year-old boy with repeated high and low respiratory infections was presented, with chest radiographic studies that revealed persistent atelectasis, in whom clinical suspicion gave way to immunological and genetic evaluations. RESULTS. The diagnosis was made at 6 years of age with serum immunoglobulin counts below the age range, flow cytometry with CD19 + of 0,08% and genetics with BTK gene mutation. Treatment with human Immunoglobulin at 400 mg / Kg every 4 weeks was initiated, IgG levels were monitored before each infusion. DISCUSSION. X- linked Agammaglobulinemia is a rare and underdiagnosed disease in which clinical suspicion represents the basis of the approach, which allowed for appropriate replacement. CONCLUSION. Timely diagnosis and treatment allowed to avoid the development of serious respiratory infections, improve de child´s quality of life and family genetic couseling.
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