Arrieta-Bolaños E

Language: Spanish
References: 29
Page: 35-47
PDF size: 98.67 Kb.

ABSTRACT

Severe Combined Immunodeficiency (SCID) is a group of immunological conditions that share an absence of T cell normal function, which causes impairment of cellular and humoral adaptive immunity. If these conditions go undetected and without medical intervention early in infancy they can lead to death. From its early clinical description some 50 years ago, knowledge of the pathogenesis and the molecular bases of the clinical presentations observed in these patients has greatly advanced to the point of currently recognizing 13 genes capable of causing SCID. Moreover, knowledge derived from the study of SCID patients has extended our understanding of the Immune System’s function at a molecular level. Treatments like hematopoietic stem cell transplantation and gene therapy were developed and successfully used for the first time in SCID patients, underscoring the importance of advancing these therapies. In addition, newborn screening programs for SCID have been launched in recent years in some areas of the world. The aim of this work is to summarize the advances in the knowledge of SCID’s molecular (etiology, its treatment, and future prospects of success in novel therapies for these patients.

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