Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management

References

• Chaudhary MW, Al-Baradie RS. Ataxia-telangiectasia: future prospects. Appl Clin Genet. 2014;7:159–167.
   PubMedGoogle Scholar
• Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988 Dec 8;336(6199):577–580.
   PubMed Web of Science ®Google Scholar
• Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol. 2008 Oct 9;(10):759–769. DOI:10.1038/nrm2514.
   PubMed Web of Science ®Google Scholar
• Nissenkorn A, Levy-Shraga Y, Banet-Levi Y, et al. Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. Pediatr Res. 2016 Jun;79(6):889–894.
   PubMed Web of Science ®Google Scholar
• Teive HA, Moro A, Moscovich M, et al. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015 Aug 15;355(1–2):3–6.
   PubMed Web of Science ®Google Scholar
• Zaki-Dizaji M, Akrami SM, Abolhassani H, et al. Ataxia telangiectasia syndrome: moonlighting ATM. Expert Rev Clin Immunol. 2017 Dec;13(12):1155–1172.
   PubMed Web of Science ®Google Scholar
• Bott L, Lebreton J, Thumerelle C, et al. Lung disease in ataxia‐telangiectasia. Acta paediatrica. 2007;96(7):1021–1024.
   PubMed Web of Science ®Google Scholar
• Schalch DS, McFarlin DE, Barlow MH. An unusual form of diabetes mellitus in ataxia telangiectasia. N Engl J Med. 1970 Jun 18;282(25):1396–1402.
   PubMed Web of Science ®Google Scholar
• Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med. 2000 Nov 21;133(10):770–778.
   PubMed Web of Science ®Google Scholar
• Rothblum-Oviatt C, Wright J, Lefton-Greif MA, et al., Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11(1):159.
   PubMed Web of Science ®Google Scholar
• van Os NJH, Chessa L, Weemaes CMR, et al. Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. J Med Genet. 2019 May;56(5):308–316.
   PubMed Web of Science ®Google Scholar
• Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev. 2004;5:S225–S233.
   PubMedGoogle Scholar
• Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature. 2003 Jan 30;421(6922):499–506.
   PubMed Web of Science ®Google Scholar
• Driessen GJ, Ijspeert H, Weemaes CM, et al. Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. J Allergy Clin Immunol. 2013 May;131(5):1367–75 e9.
   PubMed Web of Science ®Google Scholar
• Amirifar P, Yazdani R, Moeini Shad T, et al. Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: first Case from the National Iranian Registry and Review of the Literature. Immunol Invest. 2019 Nov;25:1–14.
   Web of Science ®Google Scholar
• Erttmann SF, Härtlova A, Sloniecka M, et al. Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. Immunity. 2016 Jul 19;45(1):106–118.
   PubMed Web of Science ®Google Scholar
• Yeo AJ, Henningham A, Fantino E, et al. Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity. Sci Rep. 2019 Feb 22;9(1):2627.
   PubMedGoogle Scholar
• Crawford TO, Skolasky R, Fernandez R, et al. Survival probability in ataxia telangiectasia. Arch Dis Child. 2006;91(7):610–611.
   PubMed Web of Science ®Google Scholar
• Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr. 2004;144(4):505–511.
   PubMed Web of Science ®Google Scholar
• Hadizadeh H, Salehi M, Khoramnejad S, et al. The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta-analysis. Pediatr Allergy Immunol. 2017 May;28(3):280–287.
   PubMed Web of Science ®Google Scholar
• Swift M, Morrell D, Cromartie E, et al. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet. 1986 Nov;39(5):573–583.
   PubMed Web of Science ®Google Scholar
• Modell V, Orange JS, Quinn J, et al. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018 May 9;66:367–380.
   PubMed Web of Science ®Google Scholar
• Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999 Dec 10;99(6):577–587.
   PubMed Web of Science ®Google Scholar
• Kozlov SV, Graham ME, Peng C, et al. Involvement of novel autophosphorylation sites in ATM activation. Embo J. 2006 Aug 9;25(15):3504–3514.
   PubMed Web of Science ®Google Scholar
• Kozlov SV, Graham ME, Jakob B, et al. Autophosphorylation and ATM activation: additional sites add to the complexity. J Biol Chem. 2011 Mar 18;286(11):9107–9119.
   PubMed Web of Science ®Google Scholar
• Shiloh Y, Ziv Y. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol. 2013 Apr;14(4):197–210.
   Web of Science ®Google Scholar
• Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. 1999 Sep;46(3):287–295.
   PubMed Web of Science ®Google Scholar
• Matsuda E, Agata Y, Sugai M, et al. Targeting of Kruppel-associated box-containing zinc finger proteins to centromeric heterochromatin. Implication for the gene silencing mechanisms. J Biol Chem. 2001 Apr 27;276(17):14222–14229.
   PubMed Web of Science ®Google Scholar
• Goodarzi AA, Jeggo P, Lobrich M. The influence of heterochromatin on DNA double strand break repair: getting the strong, silent type to relax. DNA Repair (Amst). 2010 Dec 10;9(12):1273–1282.
   PubMed Web of Science ®Google Scholar
• Alvarez-Quilon A, Serrano-Benitez A, Lieberman JA, et al. ATM specifically mediates repair of double-strand breaks with blocked DNA ends. Nat Commun. 2014 Feb;27(5):3347.
   Google Scholar
• Bednarski JJ, Sleckman BP. Lymphocyte development: integration of DNA damage response signaling. Adv Immunol. 2012;116:175–204.
   PubMed Web of Science ®Google Scholar
• Pandita TK. The role of ATM in telomere structure and function. Radiat Res. 2001;156(5):642–647.
   PubMed Web of Science ®Google Scholar
• Kishi S, Lu KP. A critical role for Pin2/TRF1 in ATM-dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, and the G(2)/M checkpoint defect of ataxia-telangiectasia cells. J Biol Chem. 2002 Mar 1;277(9):7420–7429.
   PubMed Web of Science ®Google Scholar
• Simonsen JL, Rosada C, Serakinci N, et al. Telomerase expression extends the proliferative life-span and maintains the osteogenic potential of human bone marrow stromal cells. Nat Biotechnol. 2002 Jun;20(6):592–596.
   PubMed Web of Science ®Google Scholar
• Amirifar P, Ranjouri MR, Yazdani R, et al. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019 May;30(3):277–288.
   PubMed Web of Science ®Google Scholar
• Watters D, Khanna KK, Beamish H, et al. Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. Oncogene. 1997 Apr 24;14(16):1911–1921.
   PubMed Web of Science ®Google Scholar
• Barlow C, Ribaut-Barassin C, Zwingman TA, et al. ATM is a cytoplasmic protein in mouse brain required to prevent lysosomal accumulation. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):871–876.
   PubMed Web of Science ®Google Scholar
• Watters D, Kedar P, Spring K, et al. Localization of a portion of extranuclear ATM to peroxisomes. J Biol Chem. 1999 Nov 26;274(48):34277–34282.
   PubMed Web of Science ®Google Scholar
• Zhang J, Tripathi DN, Jing J, et al. ATM functions at the peroxisome to induce pexophagy in response to ROS. Nat Cell Biol. 2015 Oct;17(10):1259–1269.
   PubMed Web of Science ®Google Scholar
• Lim DS, Kirsch DG, Canman CE, et al. ATM binds to beta-adaptin in cytoplasmic vesicles. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10146–10151.
   PubMed Web of Science ®Google Scholar
• Valentin-Vega YA, Maclean KH, Tait-Mulder J, et al. Mitochondrial dysfunction in ataxia-telangiectasia. Blood. 2012 Feb 9;119(6):1490–1500.
   PubMed Web of Science ®Google Scholar
• Blignaut M, Loos B, Botchway SW, et al. Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation. Sci Rep. 2019 Mar 18;9(1):4782.
   PubMedGoogle Scholar
• Guo Z, Kozlov S, Lavin MF, et al. ATM activation by oxidative stress. Science (New York, NY). 2010 Oct 22;330(6003):517–521.
   Google Scholar
• Yeo AJ, Fantino E, Czovek D, et al. Loss of ATM in Airway Epithelial Cells Is Associated with Susceptibility to Oxidative Stress. Am J Respir Crit Care Med. 2017 Aug 1;196(3):391–393.
   PubMed Web of Science ®Google Scholar
• Kamsler A, Daily D, Hochman A, et al. Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice. Cancer Res. 2001 Mar 1;61(5):1849–1854.
   PubMed Web of Science ®Google Scholar
• Gueven N, Luff J, Peng C, et al. Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant. Free Radic Biol Med. 2006 Sep 15;41(6):992–1000.
   PubMed Web of Science ®Google Scholar
• Ambrose M, Goldstine JV, Gatti RA. Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. Hum Mol Genet. 2007 Sep 15;16(18):2154–2164.
   PubMed Web of Science ®Google Scholar
• Eaton JS, Lin ZP, Sartorelli AC, et al. Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis. J Clin Invest. 2007 Sep;117(9):2723–2734.
   PubMed Web of Science ®Google Scholar
• Fang EF, Kassahun H, Croteau DL, et al. NAD(+) replenishment improves lifespan and healthspan in ataxia telangiectasia models via mitophagy and DNA repair. Cell Metab. 2016 Oct 11;24(4):566–581.
   PubMed Web of Science ®Google Scholar
• Chow HM, Cheng A, Song X, et al. ATM is activated by ATP depletion and modulates mitochondrial function through NRF1. J Cell Biol. 2019 Mar 4;218(3):909–928.
   PubMed Web of Science ®Google Scholar
• Ousset M, Bouquet F, Fallone F, et al. Loss of ATM positively regulates the expression of hypoxia inducible factor 1 (HIF-1) through oxidative stress: role in the physiopathology of the disease. Cell Cycle (Georgetown, Tex). 2010 Jul 15;9(14):2814–2822.
   PubMed Web of Science ®Google Scholar
• Hoche F, Seidel K, Theis M, et al. Neurodegeneration in ataxia telangiectasia: what is new? What is evident? Neuropediatrics. 2012 Jun;43(3):119–129.
   PubMed Web of Science ®Google Scholar
• Boder E, Sedgwick RP. Ataxia-telangiectasia. (Clinical and immunological aspects). Psychiatrie, Neurologie und medizinische Psychologie Beihefte. 1970;13-14:8–16.
   PubMedGoogle Scholar
• Shaikh AG, Zee DS, Mandir AS, et al. Disorders of upper limb movements in ataxia-telangiectasia. PloS One. 2013;8(6):e67042.
   PubMed Web of Science ®Google Scholar
• Pearson TS. More than ataxia: hyperkinetic movement disorders in childhood autosomal recessive ataxia syndromes. Tremor Other Hyperkinetic Movements. 2016;6:368.
   PubMed Web of Science ®Google Scholar
• Sahama I, Sinclair K, Pannek K, et al. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014 Aug;13(4):521–530.
   PubMed Web of Science ®Google Scholar
• Levy A, Lang AE. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. Mov Disord. 2018 Aug;33(8):1238–1247.
   PubMed Web of Science ®Google Scholar
• Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004 Aug-Sep;3(8–9):1187–1196.
   PubMed Web of Science ®Google Scholar
• Brain WR, Bannister R. Brain’s clinical neurology. Oxford University Press; 1985. 7th Ed
   Google Scholar
• Kieslich M, Weidauer S, Boda V. Kranielle kernspintomographische Befunde bei Ataxia teleangiectasia. Aktuelle Neuropädiatrie. 2004;39(6)136–139 [Article in German].
   Google Scholar
• Verhagen M, Abdo W, Willemsen M, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology. 2009;73(6):430–437.
   PubMed Web of Science ®Google Scholar
• Méneret A, Ahmar-Beaugendre Y, Rieunier G, et al. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology. 2014 Sep 16;83(12):1087–1095.
   PubMed Web of Science ®Google Scholar
• Teive HAG, Camargo CHF, Munhoz RP. More than ataxia - Movement disorders in ataxia-telangiectasia. Parkinsonism Relat Disord. 2018 Jan;46:3–8.
   PubMed Web of Science ®Google Scholar
• Nakayama T, Sato Y, Uematsu M, et al. Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia. Brain Dev. 2015 Mar;37(3):362–365.
   PubMed Web of Science ®Google Scholar
• Kuhm C, Gallenmüller C, Dörk T, et al. Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. J Neurol. 2015 Mar;262(3):768–770.
   PubMed Web of Science ®Google Scholar
• Klein C, Wenning GK, Quinn NP, et al. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord. 1996 Mar;11(2):217–220.
   PubMed Web of Science ®Google Scholar
• Paulino TL, Rafael MN, Hix S, et al. Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? Orphanet J Rare Dis. 2017 Aug 4;12(1):136.
   PubMedGoogle Scholar
• Stray-Pedersen A, Borresen-Dale AL, Paus E, et al. Alpha fetoprotein is increasing with age in ataxia-telangiectasia. Eur J Paediatric Neurol. 2007 Nov;11(6):375–380.
   PubMed Web of Science ®Google Scholar
• Donath H, Woelke S, Theis M, et al. Progressive Liver Disease in Patients With Ataxia Telangiectasia. Front Pediatr. 2019;7:458.
   PubMed Web of Science ®Google Scholar
• Kruman II, Wersto RP, Cardozo-Pelaez F, et al. Cell cycle activation linked to neuronal cell death initiated by DNA damage. Neuron. 2004 Feb 19;41(4):549–561.
   PubMed Web of Science ®Google Scholar
• Lee Y, McKinnon PJ. Responding to DNA double strand breaks in the nervous system. Neuroscience. 2007 Apr 14;145(4):1365–1374.
   PubMed Web of Science ®Google Scholar
• Cabana MD, Crawford TO, Winkelstein JA, et al. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics. 1998 Jul;102(1 Pt 1):98–100.
   PubMed Web of Science ®Google Scholar
• Farr AK, Shalev B, Crawford TO, et al. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. 2002;134(6):891–896.
   PubMed Web of Science ®Google Scholar
• Paganelli R, Scala E, Scarselli E, et al. Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxia-telangiectasia. J Clin Immunol. 1992;12(2):84–91.
   PubMed Web of Science ®Google Scholar
• Schubert R, ZIELEN S. Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia. Clin Exp Immunol. 2002;129(1):125–132.
   PubMed Web of Science ®Google Scholar
• Goodman JS, van Uden JH, Kobayashi H, et al. Serum IgD concentrations in patients with ataxia telangiectasia and with selective IgA deficiency. Int Arch Allergy Immunol. 1998;116(3):246.
   PubMed Web of Science ®Google Scholar
• Oxelius V-A, Berkel AI, Hanson LÅ. IgG2 deficiency in ataxia-telangiectasia. N Engl J Med. 1982;306(9):515–517.
   PubMed Web of Science ®Google Scholar
• Sanal O, Ersoy F, Yel L, et al. Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia–telangiectasia. J Clin Immunol. 1999;19(5):326–334.
   PubMed Web of Science ®Google Scholar
• Fiorilli M, Businco L, Pandolfi F, et al. Heterogeneity of immunological abnormalities in ataxia-telangiectasia. J Clin Immunol. 1983 Apr;3(2):135–141.
   PubMed Web of Science ®Google Scholar
• van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017 May;178:45–55.
   PubMed Web of Science ®Google Scholar
• Ghiasy S, Parvaneh L, Azizi G, et al. The clinical significance of complete class switching defect in Ataxia telangiectasia patients. Expert Rev Clin Immunol. 2017 May;13(5):499–505.
   PubMed Web of Science ®Google Scholar
• Etzioni A, Ben-Barak A, Peron S, et al. Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. Isr Med Assoc J. 2007;9(5):406–407.
   PubMed Web of Science ®Google Scholar
• Noordzij JG, Wulffraat NM, Haraldsson A, et al. Ataxia-telangiectasia patients presenting with hyper-IgM syndrome. Arch Dis Child. 2009 Jun;94(6):448–449.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Imai K, Moazzami K, et al. Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. J Investig Allergol Clin Immunol. 2010;20(5):442–445.
   PubMed Web of Science ®Google Scholar
• Mohammadinejad P, Abolhassani H, Aghamohammadi A, et al. Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM. J Immunoassay Immunochem. 2015;36(1):16–26.
   PubMedGoogle Scholar
• Suarez F, Mahlaoui N, Canioni D, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol. 2015 Jan 10;33(2):202–208.
   PubMed Web of Science ®Google Scholar
• Waldmann T. Immunological abnormalities in ataxia-telangiectasia. Ataxia-telangiectasia. 1982;37:78-89.
   Google Scholar
• Ament M. Respiratory complications of ataxia-telangiectasia. N Engl J Med. 1969;281(18):1019.
   PubMed Web of Science ®Google Scholar
• Bobba N, Kaplan MS. Immunodeficiency and infections in ataxia-telangiectasia. Pediatrics. 2005;116(Supplement 2):568.
   Google Scholar
• Amirifar P, Mozdarani H, Yazdani R, et al. Effect of class switch recombination defect on the phenotype of ataxia-telangiectasia patients. Immunol Invest. 2020 Mar;2:1–15.
   Web of Science ®Google Scholar
• Jesus AA, Duarte AJ, Oliveira JB. Autoimmunity in hyper-IgM syndrome. J Clin Immunol. 2008 May;28(Suppl 1):S62–6.
   PubMed Web of Science ®Google Scholar
• Herve M, Isnardi I, Ng YS, et al. CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. J Exp Med. 2007 Jul 9;204(7):1583–1593.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Mohammadinejad P, Abolhassani H, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. J Clin Immunol. 2014 May;34(4):478–490.
   PubMed Web of Science ®Google Scholar
• Zaki-Dizaji M, Akrami SM, Azizi G, et al. Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis? Inflamm Res. 2018 Jul;67(7):559–570.
   PubMed Web of Science ®Google Scholar
• Upadhyaya SA, Mody R, Walkovich K, et al. Ataxia telangiectasia and cancer predisposition: challenges in management. J Pediatr Hematol Oncol. 2017 Dec 1;40(6):483-486.
   Web of Science ®Google Scholar
• Meyts I, Weemaes C, De Wolf-Peeters C, et al. Unusual and severe disease course in a child with ataxia-telangiectasia. Pediatr Allergy Immunol. 2003 Aug;14(4):330–333.
   PubMed Web of Science ®Google Scholar
• Härtlova A, Erttmann SF, Raffi FA, et al. DNA damage primes the type I interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity. Immunity. 2015 Feb 17;42(2):332–343.
   PubMed Web of Science ®Google Scholar
• Quek H, Luff J, Cheung K, et al. A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. Hum Mol Genet. 2017 Jan 1;26(1):109–123.
   PubMed Web of Science ®Google Scholar
• Erttmann SF, Härtlova A, Sloniecka M, et al. Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. Immunity. 2017 Dec 19;47(6):1210–1211.
   PubMed Web of Science ®Google Scholar
• Agrawal S, Prakash S. Significance of KIR like natural killer cell receptors in autoimmune disorders. Clin Immunol. 2020 May;3:108449.
   Google Scholar
• Lefton-Greif MA, Crawford TO, Winkelstein JA, et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr. 2000 Feb;136(2):225–231.
   PubMed Web of Science ®Google Scholar
• Umetsu DT, Ambrosino DM, Quinti I, et al. Recurrent sinopulmonary infection and impaired antibody response to bacterial capsular polysaccharide antigen in children with selective IgG-subclass deficiency. N Engl J Med. 1985 Nov 14;313(20):1247–1251.
   PubMed Web of Science ®Google Scholar
• Galasko C, Williamson J, Delaney C. Lung function in Duchenne muscular dystrophy. Eur Spine J. 1995;4(5):263–267.
   PubMedGoogle Scholar
• Berkun Y, Vilozni D, Levi Y, et al. Reversible airway obstruction in children with ataxia telangiectasia. Pediatr Pulmonol. 2010 Mar;45(3):230–235.
   PubMed Web of Science ®Google Scholar
• McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, et al. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol. 2010 Sep;45(9):847–859.
   PubMed Web of Science ®Google Scholar
• Cohen LE, Tanner DJ, Schaefer HG, et al. Common and uncommon cutaneous findings in patients with ataxia-telangiectasia. J Am Acad Dermatol. 1984 Mar;10(3):431–438.
   PubMed Web of Science ®Google Scholar
• Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014 Apr;46(2):112–119.
   PubMed Web of Science ®Google Scholar
• Chiam LY, Verhagen MM, Haraldsson A, et al. Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation? Dermatology. 2011;223(1):13–19.
   PubMed Web of Science ®Google Scholar
• Woelke S, Valesky E, Bakhtiar S, et al. Treatment of granulomas in patients with ataxia telangiectasia. Front Immunol. 2018;9:2000.
   PubMed Web of Science ®Google Scholar
• Reiman A, Srinivasan V, Barone G, et al. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer. 2011 Aug 9;105(4):586–591.
   PubMed Web of Science ®Google Scholar
• Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst. 1986 Jul;77(1):89–92.
   PubMedGoogle Scholar
• Taylor A, Metcalfe J, Thick J, et al. Leukemia and lymphoma in ataxia telangiectasia. Blood. 1996;87(2):423–438.
   PubMed Web of Science ®Google Scholar
• Kulinski JM, Leonardo SM, Mounce BC, et al. Ataxia telangiectasia mutated kinase controls chronic gammaherpesvirus infection. J Virol. 2012 Dec;86(23):12826–12837.
   PubMed Web of Science ®Google Scholar
• Olsen JH, Hahnemann JM, Borresen-Dale AL, et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst. 2001 Jan 17;93(2):121–127.
   PubMedGoogle Scholar
• Swift M, Morrell D, Massey RB, et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991 Dec 26;325(26):1831–1836.
   PubMed Web of Science ®Google Scholar
• Marabelli M, Cheng SC, Parmigiani G. Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk. Genet Epidemiol. 2016 Jul;40(5):425–431.
   PubMed Web of Science ®Google Scholar
• Antoniou AC, Pharoah PP, Smith P, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer. 2004 Oct 18;91(8):1580–1590.
   PubMed Web of Science ®Google Scholar
• Hall MJ, Forman AD, Pilarski R, et al. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014 Sep;12(9):1339–1346.
   PubMed Web of Science ®Google Scholar
• Painter RB, Young BR. Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci U S A. 1980 Dec;77(12):7315–7317.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Akrami SM, Yaghmaie M, et al. Individual radiosensitivity assessment of the families of ataxia-telangiectasia patients by G2-checkpoint abrogation. Sultan Qaboos Univ Med J. 2018 Nov;18(4):e440–e446.
   PubMedGoogle Scholar
• Thacker J. Cellular radiosensitivity in ataxia-telangiectasia. Int J Radiat Biol. 1994;66(sup6):S87–S96.
   PubMedGoogle Scholar
• Scott D. Chromosomal radiosensitivity, cancer predisposition and response to radiotherapy. Strahlentherapie und Onkologie. 2000;176(5):229–234.
   PubMed Web of Science ®Google Scholar
• Hart RM, Kimler BF, Evans RG, et al. Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia. Int J Radiat Oncol Biol Phys. 1987 Aug;13(8):1237–1240.
   PubMed Web of Science ®Google Scholar
• DeWire MD, Beltran C, Boop FA, et al. Radiation therapy and adjuvant chemotherapy in a patient with a malignant glioneuronal tumor and underlying ataxia telangiectasia: a case report and review of the literature. J Clin Oncol. 2013 Jan 1;31(1):e12–4.
   PubMed Web of Science ®Google Scholar
• Connelly PJ, Smith N, Chadwick R, et al. Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance. Diabet Med. 2016 Mar;33(3):371–375.
   PubMed Web of Science ®Google Scholar
• Yang DQ, Halaby MJ, Li Y, et al. Cytoplasmic ATM protein kinase: an emerging therapeutic target for diabetes, cancer and neuronal degeneration. Drug Discov Today. 2011 Apr;16(7–8):332–338.
   PubMed Web of Science ®Google Scholar
• Ditch S, Paull TT. The ATM protein kinase and cellular redox signaling: beyond the DNA damage response. Trends Biochem Sci. 2012 Jan;37(1):15–22.
   PubMed Web of Science ®Google Scholar
• Fernandez AM, Carro EM, Lopez-Lopez C, et al. Insulin-like growth factor I treatment for cerebellar ataxia: addressing a common pathway in the pathological cascade? Brain Res Brain Res Rev. 2005 Dec 1;50(1):134–141.
   PubMedGoogle Scholar
• van Os NJ, Roeleveld N, Weemaes CM, et al. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet. 2016 Aug;90(2):105–117.
   PubMed Web of Science ®Google Scholar
• Shaikh AG, Marti S, Tarnutzer AA, et al. Ataxia telangiectasia: a “disease model” to understand the cerebellar control of vestibular reflexes. J Neurophysiol. 2011 Jun;105(6):3034–3041.
   PubMed Web of Science ®Google Scholar
• Shaikh AG, Marti S, Tarnutzer AA, et al. Gaze fixation deficits and their implication in ataxia-telangiectasia. J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):858–864.
   PubMed Web of Science ®Google Scholar
• Lefton-Greif MA, Perlman AL, He X, et al. Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. Dev Med Child Neurol. 2016 Oct;58(10):1069–1075.
   PubMed Web of Science ®Google Scholar
• Perlman S, Becker-Catania S, Gatti RA, editors. Ataxia-telangiectasia: diagnosis and treatment. In: Seminars in pediatric neurology. Elsevier; 2003;10(3):173-182.
   Google Scholar
• Stray-Pedersen A, Jonsson T, Heiberg A, et al. The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents. Clin Exp Immunol. 2004 Jul;137(1):179–186.
   PubMed Web of Science ®Google Scholar
• Sugimoto T, Sawada T, Tozawa M, et al. Plasma levels of carcinoembryonic antigen in patients with ataxia-telangiectasia. J Pediatr. 1978;92(3):436–439.
   PubMed Web of Science ®Google Scholar
• Koksal Y, Caliskan U, Ucar C, et al. Dysgerminoma in a child with ataxia–telangiectasia. Pediatr Hematol Oncol. 2007;24(6):431–436.
   PubMed Web of Science ®Google Scholar
• Grunnet M, Sorensen J. Carcinoembryonic antigen (CEA) as tumor marker in lung cancer. Lung Cancer. 2012;76(2):138–143.
   PubMed Web of Science ®Google Scholar
• Seidel MG, Kindle G, Gathmann B, et al. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. The Journal of Allergy and Clinical Immunology in Practice. 2019 Feb 15;7:1763–1770.
   PubMed Web of Science ®Google Scholar
• van Os NJH, van Deuren M, Weemaes CMR, et al. Classic ataxia-telangiectasia: the phenotype of long-term survivors. J Neurol. 2020 Mar;267(3):830–837.
   PubMed Web of Science ®Google Scholar
• Taylor AM, Lam Z, Last JI, et al. Ataxia telangiectasia: more variation at clinical and cellular levels. Clin Genet. 2015 Mar;87(3):199–208.
   PubMed Web of Science ®Google Scholar
• Verhagen MM, Last JI, Hogervorst FB, et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat. 2012 Mar;33(3):561–571.
   PubMed Web of Science ®Google Scholar
• Blom M, Schoenaker MHD, Hulst M, et al. Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: parents’ Perspective on Ataxia Telangiectasia. Front Immunol. 2019;10:2438.
   PubMed Web of Science ®Google Scholar
• Lavin MF, Gueven N, Bottle S, et al. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull. 2007;81-82:129–147.
   PubMed Web of Science ®Google Scholar
• Nissenkorn A, Hassin-Baer S, Lerman SF, et al. Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. J Child Neurol. 2013 Feb;28(2):155–160.
   PubMed Web of Science ®Google Scholar
• Marmolino D, Manto M. Past, present and future therapeutics for cerebellar ataxias. Curr Neuropharmacol. 2010 Mar;8(1):41–61.
   PubMed Web of Science ®Google Scholar
• van Egmond ME, Elting JW, Kuiper A, et al. Myoclonus in childhood-onset neurogenetic disorders: the importance of early identification and treatment. Eur J Paediatric Neurol. 2015 Nov;19(6):726–729.
   PubMed Web of Science ®Google Scholar
• Broccoletti T, Del Giudice E, Amorosi S, et al. Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients. Eur J Neurol. 2008 Mar;15(3):223–228.
   PubMed Web of Science ®Google Scholar
• Schoenaker MH, Suarez F, Szczepanski T, et al. Treatment of acute leukemia in children with ataxia telangiectasia (A-T). Eur J Med Genet. 2016 Dec;59(12):641–646.
   PubMed Web of Science ®Google Scholar
• Mitchell CD, Richards SM, Kinsey SE, et al. Benefit of dexamethasone compared with prednisolone for childhood acute lymphoblastic leukaemia: results of the UK Medical Research Council ALL97 randomized trial. Br J Haematol. 2005 Jun;129(6):734–745.
   PubMed Web of Science ®Google Scholar
• Lefton-Greif MA, Crawford TO, McGrath-Morrow S, et al. Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia. Orphanet J Rare Dis. 2011 May;15(6):23.
   Google Scholar
• Seshachalam A, Cyriac S, Reddy N, et al. Ataxia telangiectasia: family management. Indian J Hum Genet. 2010 Jan;16(1):39–42.
   PubMedGoogle Scholar