Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Journal of Allergy and Clinical Immunology

Volumn 128, Issue 2, 2011, Pages

  Micol, Romain ^a,b,s,t   Ben Slama, Lilia ^a,s   Suarez, Felipe ^a,s   Le Mignot, Loïc ^a,s   Beauté, Julien ^a,s   Mahlaoui, Nizar ^a,s   Dubois D'Enghien, Catherine ^c   Laugé, Anthony ^c   Hall, Janet ^d   Couturier, Jérôme ^c,e   Vallée, Louis ^f   Delobel, Bruno ^f   Rivier, François ^g,u   Nguyen, Karine ^h   Billette De Villemeur, Thierry ⁱ   Stephan, Jean Louis ^a,j,s   Bordigoni, Pierre ^a,k,s   Bertrand, Yves ^a,l,s   Aladjidi, Nathalie ^a,m,s   Pedespan, Jean Michel ⁿ   Thomas, Caroline ^a,o,s   Pellier, Isabelle ^a,p,s   Koenig, Michel ^q,v   Hermine, Olivier ^a,s   Picard, Capucine ^a,s   Moshous, Despina ^a   Neven, Bénédicte ^a   Lanternier, Fanny ^b   Blanche, Stéphane ^a,s   Tardieu, Marc ^r   Debré, Marianne ^a,s   Fischer, Alain ^a,b,s   Stoppa Lyonnet, Dominique ^b,c,d   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT CURIE   (France)

^d INSTITUT CURIE   (France)

^e INSERM U612   (France)

^f UNIV LILLE   (France)

^g UNIV MONTPELLIER   (France)

^h TIMONE HOSPITAL   (France)

ⁱ SORBONNE UNIVERSITÉ   (France)

^j HÔPITAL NORD   (France)

^k HÔPITAL D ENFANTS   (France)

^l Institute of Pediatric Hematology and Oncology   (France)

^m HÔPITAL PELLEGRIN   (France)

ⁿ UNIVERSITÉ DE BORDEAUX   (France)

^o Hopital Mere Enfant CHU de Nantes   (France)

^p ANGERS UNIVERSITY HOSPITAL   (France)

^q CNRS   (France)

^r BICÊTRE HOSPITAL   (France)

^s Associated Collaborative Centers   (France)

^t TRANSGENE S A   (France)

^u GUI DE CHAULIAC HOSPITAL   (France)

^v HÔPITAL CIVIL   (France)

more..

Author keywords

Cancer; DNA repair; genetics; inherited; leukemia; lymphoma

Indexed keywords

ATM PROTEIN; GENE PRODUCT;

ARTICLE; ATAXIA TELANGIECTASIA; CANCER RISK; CAUSE OF DEATH; CHILD; DISABILITY; DISEASE COURSE; FEMALE; FRANCE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENOTYPE; GROUPS BY AGE; HUMAN; INCIDENCE; LIFE EXPECTANCY; LOWER RESPIRATORY TRACT INFECTION; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MORTALITY; NEOPLASM; NEUROLOGIC DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; TREATMENT OUTCOME; UPPER RESPIRATORY TRACT INFECTION;

EID: 79961015789     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2011.03.052     Document Type: Article

References (28)

1. Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 1958;21:526-54.
2. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-80. (Pubitemid 19007315)
3. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.
4. Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol 2008;9:759-69.
5. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005;97:813-22. (Pubitemid 40909124)
6. Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol 2007;147:306-12.
7. The French national registry of primary immunodeficiency diseases. Clin Immunol 2010;135:264-72.
8. Aurias A. [Cytogenetic analysis of 21 cases of ataxia telangiectasia]. J Genet Hum 1981;29:235-47.
9. Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pages- Berhouet S, et al. Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat 2008;29:975-82. (Pubitemid 351951292)
10. Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006;43:295-305.
11. Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survival probability in ataxia telangiectasia. Arch Dis Child 2006;91:610-1. (Pubitemid 44023364)
12. Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology 2003;45:315-9. (Pubitemid 36656622)
13. Triki C, Feki I, Meziou M, Turki H, Zahaf A, Mhiri C. [Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia]. Rev Neurol (Paris) 2000;156:634-7.
14. Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992;82:169-79.
15. Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009;73:430-7.
16. Angele S, Lauge A, Fernet M, Moullan N, Beauvais P, Couturier J, et al. Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. Hum Mutat 2003;21:169-70.
17. Barone G, Groom A, Reiman A, Srinivasan V, Byrd PJ, Taylor AM. Modeling ATM mutant proteins from missense changes confirms retained kinase activity. Hum Mutat 2009;30:1222-30.
18. Mitui M, Nahas SA, Du LT, Yang Z, Lai CH, Nakamura K, et al. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat 2009;30:12-21.
19. Li A, Swift M. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 2000;92:170-7. (Pubitemid 30228487)
20. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986;77:89-92. (Pubitemid 16077187)
21. Moin M, Aghamohammadi A, Kouhi A, Tavassoli S, Rezaei N, Ghaffari SR, et al. Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. Pediatr Neurol 2007;37:21-8. (Pubitemid 47030790)
22. Ayache R, Najjar MF, Obeid H, Pousse H, Gueddiche MN. [Ataxia telangiectasia. Clinical and biological study in 17 cases]. Ann Biol Clin (Paris) 1994;52:117-20.
23. Ersoy F, Berkel AI, Sanal O, Oktay H. Twenty-year follow-up of 160 patients with ataxia-telangiectasia. Turk J Pediatr 1991;33:205-15.
24. Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004;144:505-11.
25. Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, et al. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clin Exp Immunol 2008;153:214-20. (Pubitemid 351989158)
26. Quartier P, Bustamante J, Sanal O, Plebani A, Debre M, Deville A, et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin Immunol 2004;110:22-9. (Pubitemid 38177417)
27. Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol 2002;104:221-30. (Pubitemid 35191097)
28. Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev 2004;5(suppl A):S225-33.