ATAXIA-TELANGIECTASIA : A Primary Immunodeficiency Revisited - 04/09/11

Doi : 10.1016/S0889-8561(05)70141-7

José R. Regueiro, PhD ^a, Oscar Porras, MD, PhD ^b, Martin Lavin, MD ^c, Richard A. Gatti, MD ^d

^a Inmunología, Facultad de Medicina, Universidad Complutense, Madrid, Spain (JRR)

^b Inmunología, Hospital Nacional de Niños, San Jose, Costa Rica (OP)

^c The Queensland Institute of Medical Research, Brisbane, Queensland, Australia (ML)

^d Department of Pathology, University of California Los Angeles, School of Medicine, Los Angeles, California (RAG)

Esquema

Developmental Abnormalities

Functional Abnormalities

Regulatory Abnormalities

GENETIC ASPECTS

Mutations

Cancer Risk in Heterozygotes

Diagnostic Genetics

ATM FUNCTION

SUMMARY

Address reprint requests to Richard A. Gatti, MD, Department of Pathology, University of California Los Angeles, School of Medicine, 650 Young Drive South, Box 173216, Los Angeles, CA 90095–1732, e-mail: rgatti@pathology.medsch.ucla.edu
This article was supported, in part, by grants from the US Department of Energy (ER 60548) (RAG), National Institutes of Health (NS 35322) (RAG), Ministerio de Educación (PR25/95, PR 112/96) (JRR), Comunidad de Madrid (8.3/13/97) (JRR), Fondo de Investigaciones Sanitarias (00/112) (JRR), and the Ataxia-Telangiectasia Medical Research Foundation (RAG, OP). The authors also thank Miguel Rivero-Carmena and David A. Zapata for their expert assistance.