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ISSN 1405-1699 (Print)
Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2014, Number 2

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Alerg Asma Inmunol Pediatr 2014; 23 (2)

Early diagnosis severe combined immunodeficiency by neonatal screen

Contreras-Verduzco FA, Morales-Vázquez A, Medina-Torres EA, Espinosa-Padilla SE

Language: Spanish
References: 35
Page: 48-56
PDF size: 426.02 Kb.


ABSTRACT

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of genetic diseases that affect one or more components of the immune system. They are more common than previously thought and have a wide spectrum of clinical manifestations and laboratory findings. Severe combined immunodeficiency (SCID) is lethal in the first years of life unless the affected children are diagnosed before the onset of catastrophic infections and their immune system is reconstituted through hematopoietic progenitor cells transplantation (HSCT), enzyme replacement or gene therapy as appropriate. SCID is estimated to have an incidence of 1 case in 50,000 to 100,000 live births worldwide, but thanks to new methods of detection can be estimated which can be up to one case per 33,000 live births. During maturation of T lymphocytes fragments of deoxyribonucleic acid (DNA), called TREC’s (T cell receptor excision circles), are generated and can be detected by DNA analysis of peripheral blood lymphocytes through dried blood spots on Guthrie card. The technique used is a polymerase chain reaction (PCR) in real time. In Mexico, the Research Unit in Primary Immunodeficiencies of the National Institute of Pediatrics is implementing the method of diagnosis of SCID through the detection of TREC’s in neonatal screening for Mexican children.


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