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

2012, Number 1

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Alerg Asma Inmunol Pediatr 2012; 21 (1)

Chromosomal instability syndromes associated with immunodeficiency: Important cytogenetic aspects in the diagnosis

Navarrete MMP, Pérez VP, Cruz AR

Language: Spanish
References: 52
Page: 13-22
PDF size: 180.96 Kb.


ABSTRACT

Chromosomal instability syndromes are caused by alterations in DNA repair and damage response. These diseases belong to the group of well-defined syndrome associated primary immunodeficiencies because they have immune system failure. Additionally, they present abnormalities in the chromosome structure and behavior, which have to be evidenced by cytogenetic methods. The diagnosis of these disorders is a challenge, since it involves the participation of specialists in Immunology and Genetics. In this paper Ataxia Telangiectasia, Nijmegen, Bloom and ICF Syndromes are reviewed, focusing on the cytogenetic basis of the diagnosis.


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