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Revista Cubana de Hematología, Inmunología y Hemoterapia
On-line version ISSN 1561-2996
Abstract
BURON HERNANDEZ, Jesús Salím and INSUA ARREGUI, Concepción. Severe Combined Immunodeficiency: Case presentation. Rev Cubana Hematol Inmunol Hemoter [online]. 2022, vol.38, n.1 Epub Apr 15, 2022. ISSN 1561-2996.
Introduction:
Primary Immunodeficiencies are a heterogeneous group of inherited disorders caused by defects in development or function of the immune system. Severe Combined Immunodeficiencies constitute 15% of the primary immunodeficiencies, they are acute and patients rarely survive without treatment after the first year of life, requiring a quick diagnosis and treatment.
Objective:
To present a case on Severe Combined Immunodeficiency, a condition infrequently reported and with unfavorable evolution.
Case presentation:
Six-month-old male infant with a history of four admissions to the Intensive Care Unit due to infections, in the latter one due to bilateral bronchopneumonia. He was evaluated by Immunology and a Severe Combined Immunodeficiency was diagnosed by the clinic (infections by opportunistic germs: Candida albicans and Pneumocistys jirovecii) and immunological studies (with a decrease in IgG antibodies: 0.02 g/L, IgM: 0.1 g/L and IgA: 0 g/L), decreased lymphocyte subpopulations (CD3/CD4: 9.3%, CD3/CD8: 5.6%, CD19: 0%, CD 16: 0.73%), in addition to severe thymic hypoplasia (120 mm2). Treatment with broad spectrum antimicrobials and immunostimulants (Hebertrans and Biomodulin T) was started. He evolved unfavorably and died of septic shock.
Conclusions:
Severe Combined Immunodeficiency is a pediatric emergency that must be taken into account in patients with a history of recurrent infections, it is vital to know the early clinical manifestations that allow a suspected diagnosis, making use of all the available tools for its confirmation. Early diagnosis is the key element in reducing morbidity and mortality related to these diseases.
Keywords : primary immunodeficiencies; severe combined immunodeficiency; intensive care unit.