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Órgano Oficial del Instituto Nacional de Pediatría

2019, Number 4

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Acta Pediatr Mex 2019; 40 (4)

The importance of genetic diagnosis in severe combined immunodeficiencies

Saucedo-Aparicio AG, Espinosa-Padilla SE, López-Jasso F, Meza VR, Rivera-Lizárraga DA, Bustamante-Ogando JC

Language: Spanish
References: 45
Page: 234-251
PDF size: 880.46 Kb.


ABSTRACT

There are more than 300 primary immunodeficiencies caused by genetic defects in the immune system. Among them, there is a group known as severe combined immunodeficiency, causing abnormalities in both cellular and humoral adaptive immunity. Severe combined immunodeficiency is a medical emergency due to the high mortality without treatment. Mutations in different genes can cause severe combined immunodeficiency, with similar clinical features. Obtaining a specific genetic diagnosis offers advantages for clinical care and research. Approximately 70% of patients with severe combined immunodeficiency in Latin America do not have a confirmed genetic diagnosis; therefore, the clinical care for these patients may be suboptimal. The purpose of this paper is to review and present current options for the genetic diagnosis of severe combined immunodeficiency and to discuss advantages, limitations, and challenges of improving genetic diagnosis. Although there have been significant improvements in recent years, it is necessary to make more accessible the sequencing tools for genetic diagnosis of severe combined immunodeficiency in Mexico and Latin America, in addition to increase knowledge about these tools among primary care physicians, mainly pediatricians. Genetic diagnosis should not be considered a luxury or merely useful for research, but as a clinical tool that may improve the care of patients with severe combined immunodeficiencies and their families.


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