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Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2020, Number 1

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Alerg Asma Inmunol Pediatr 2020; 29 (1)

Severe combined immunodeficiency: case report

Murguía PJG, Pérez-Gaxiola G, García-Domínguez M

Language: Spanish
References: 13
Page: 37-41
PDF size: 241.74 Kb.


ABSTRACT

Introduction: Severe combined immunodeficiency is characterized by immunological defect due to T-cell lymphopenia, with or without B-cell and NK-cell deficiency, causing serious infections and early onset by opportunistic agents such as fungi, bacteria and/or virus, representing a pediatric emergency. Case report: We present the case of a male patient who at two months of age presented persistent fever, lymphopenia and absence of thymic shadow on the chest radiograph in which the diagnosis of severe combined immunodeficiency was integrated due to low immunoglobulin levels, expanded metabolic neonatal sieve with quantification of T-cell receptor excision circles and subpopulations of T-lymphocytes, treatment with intravenous gammaglobulin was established and he received hematopoietic progenitor cell transplantation, which failed due to chronic enteral viral infection and died after gastrointestinal sepsis with septic shock. Conclusion: The early presentation and severity of symptoms should be suspected for timely diagnosis and treatment with a direct impact on the prognosis and quality of life.


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