Update on the management of the immunodeficiency in ataxia-telangiectasia

Expert Review of Clinical Immunology

Volumn 5, Issue 5, 2009, Pages 565-575

  Davies, E Graham ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Antibiotics; Ataxia telangiectasia; Ataxia telangiectasia mutated gene; ATM; Azithromycin; Immunization; Immunodeficiency; Immunoglobulin

Indexed keywords

ANTIOXIDANT; AZITHROMYCIN; CORTICOSTEROID; IMMUNOGLOBULIN; INFLUENZA VACCINE; MEASLES MUMPS RUBELLA VACCINE; PNEUMOCOCCUS VACCINE; VARICELLA ZOSTER VACCINE;

ANTIBIOTIC PROPHYLAXIS; ATAXIA TELANGIECTASIA; ENZYME ACTIVITY; GENETIC TRANSCRIPTION; HUMAN; IMMUNE DEFICIENCY; IMMUNIZATION; IMMUNOTHERAPY; INFECTION SENSITIVITY; LUNG ASPIRATION; LUNG INFECTION; OPPORTUNISTIC INFECTION; REVIEW; SINUSITIS;

EID: 77949786811     PISSN: 1744666X     EISSN: None     Source Type: Journal    
DOI: 10.1586/eci.09.35     Document Type: Review

References (108)

1. Savitsky K, Bar-Shira A, Gilad S et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268, 749-753 (1995).
2. Matsuoka S, Ballif BA, Smogorzewska A et al. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316, 1160-1166 (2007).
3. Pandita TK. A multifaceted role for ATM in genome maintenance. Expert Rev. Mol. Med. 5(16), 1-21 (2003).
4. Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signaling and cancer. Nat. Rev. Mol. Cell Biol. 9, 759-769 (2008).
5. Cimprich KA, Cortez D. ATR: an essential regulator of genome integrity. Nat. Rev. Mol. Cell Biol. 9, 616-627 (2008).
6. Migliore L, Coppedè F. Environmentalinduced oxidative stress in neurodegenerative disorders and aging. Mutat. Res. 674(1-2), 73-84 (2008).
7. Hecht F, Hecht BK. Cancer in ataxiatelangiectasia patients. Cancer Genet. Cytogenet. 46, 9-19 (1990).
8. Spector BD, Fiipovich AH, Perry GS III, Kersey JH. Epidemiology of cancer in ataxia-telangiectasia. In: Ataxiatelangiectasia: a Cellular and Molecular Link Between Cancer, Neuropathology and Immune Deficiency. Bridges BA, Harnden DG (Eds). Wiley, New York, USA 103-138 (1982).
9. Thompson D, Duedal S, Kirner J et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J. Natl Cancer Inst. 97, 813-822 (2005).
10. Renwick A, Thompson D, Seal S. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat. Genet. 38, 873-875 (2006).
11. Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survival probability in ataxia-telangiectasia. Arch. Dis. Child. 91, 610-611 (2006).
12. Sutton IJ, Last JI, Ritchie SJ, et al. Adult-onset ataxia-telangiectasia due to ATM 5762ins137 mutation homozygosity. Ann. Neurol. 55, 891-895 (2004).
13. McConville C, Stankovic T, Byrd PJ et al. Mutations associated with variant phenotypes in ataxia-telangiectasia. Am. J. Hum. Genet. 59, 320-330 (1996).
14. Stewart GS, Last JI, Stankovic T et al. Residual ataxia telangiectasia mutated protein function in cells from ataxiatelangiectasia patients, with 5762ins137 and 7271T->G mutations, showing a less severe phenotype. J. Biol. Chem. 276, 30133-30141 (2001).
15. Gilad S, Chessa L, Khosravi R et al. Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am. J. Hum. Genet. 62, 551-561 (1998).
16. Saviozzi S, Saluto A, Taylor AM et al. A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. J. Med. Genet. 39, 57-61 (2002).
17. Verhagen MM, Abdo WF, Willemsen MA et al. Clinical spectrum of ataxiatelangiectasia in adulthood. Neurology 73(6), 430-437 (2009).
18. Staples ER, McDermott EM, Reiman A et al. Immunodeficiency in ataxiatelangiectasia is correlated strongly with the presence of two null mutations in the ataxia-telangiectasia mutated gene. Clin. Exp. Immunol. 153, 214-220 (2008).
19. Liu W, Narayanan V. Ataxia with oculomotor apraxia. Semin. Pediatr. Neurol. 15, 216-220 (2008).
20. McFarlin DE, Strober W, Waldmann TA. Ataxia-telangiectasia. Medicine (Baltimore) 51, 281-314 (1972).
21. Bott L, Lebreton J, Thumerelle C, Cuvellier J, Deschildre A, Sardet A. Lung disease in ataxia-telangiectasia. Acta Paediatr. 96, 1021-1024 (2007).
22. Nowak-Wegrzyn A, Crawford TO, Winkelstein JA et al. Immunodeficiency and infections in ataxia-telangiectasia. J. Pediatr. 144, 505-511 (2004).
23. Ersoy F, Berkel AI, Sanal O, Oktay H. Twenty-year follow-up of 160 patients with ataxia-telangiectasia. Turk J. Pediatr. 33, 205-215 (1991).
24. Buehring I, Friedrich B, Schaaf J, Schmidt H, Ahrens P, Zielen S. Chronic sinusitis refractory to standard management in patients with humoral immunodeficiencies. Clin. Exp. Immunol. 109, 468-472 (1997).
25. Lefton-Greif MA, Crawford TO, Winkelstein JA et al. Oropharyngeal dysphasia and aspiration in patients with ataxia-telangiectasia. J. Pediatr. 136, 225-231 (2000).
26. Verhagen MM, van Alfen N, Pillen S et al. Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study. Neuropediatrics 38, 117-121 (2007).
27. Aughenbaugh GL. Thoracic manifestations of neurocutaneous diseases. Radiol. Clin. North Am. 22, 741-756 (1984).
28. Ito M, Nakagawa A, Hirabayashi N, Asai J. Bronchiolitis obliterans in ataxiatelangiectasia. Virchows Arch. 430, 131-137 (1997).
29. Schroeder SA, Swift M, Sandoval C, Langston C. Interstitial lung disease in patients with ataxia-telangiectasia. Pediatr. Pulmonol. 39, 537-543 (2005).
30. Park HS, Kim SR, Lee YC. Impact of oxidative stress on lung diseases. Respirology 14, 27-38 (2009).
31. Aksoy Y, Sanal O, Metin A et al. Antioxidant enzymes in red blood cells and lymphocytes of ataxia-telangiectasia patients. Turk J. Pediatr. 46, 204-207 (2004).
32. Tsukahara M, Masuda M, Ohshiro K et al. Ataxia telangiectasia with generalized skin pigmentation and early death. Eur. J. Pediatr. 145, 121-124 (1986).
33. Stray-Pedersen A, Jónsson T, Heiberg A et al. The impact of an early truncating founder ATM mutation on immunoglobulins,specific antibodies and lymphocyte populations in ataxiatelangiectasia patients and their parents. Clin. Exp. Immunol. 137, 179-186 (2004).
34. Cohen LE, Tanner DJ, Schaefer HG, Levis WR. Common and uncommon cutaneous findings in patients with ataxiatelangiectasia. J. Am. Acad. Dermatol. 10, 431-438 (1984).
35. Ristow M. Neurodegenerative disorders associated with diabetes mellitus. J. Mol. Med. 82, 510-529 (2004).
36. Meyts I, Weemaes C, De Wolf-Peeters C et al. Unusual and severe disease course in a child with ataxia-telangiectasia. Pediatr. Allergy Immunol. 14, 330-333 (2003).
37. Schulte-Wissermann H, Gutjahr P, Zebisch P, Reitz M, Lemmel EM. Immunological investigations in two brothers with ataxia telangiectasia Louis-Bar. Eur. J. Pediatr. 122, 93-102 (1976).
38. Corbisier A, Eschard C, Motte J et al. Cutaneous granulomatous lesions disclosing ataxia-telangiectasia. Ann. Dermatol. Venereol. 126, 608-611 (1999).
39. Mitra A, Pollock B, Gooi J, Darling JC, Boon A, Newton-Bishop JA. Cutaneous granulomas associated with primary immunodeficiency disorders. Br. J. Dermatol. 153, 194-199 (2005).
40. de Jager M, Blokx W, Warris A et al. Immunohistochemical features of cutaneous granulomas in primary immunodeficiency disorders: a comparison with cutaneous sarcoidosis. J. Cutan. Pathol. 35, 467-472 (2008).
41. Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood 87, 423-438 (1996).
42. Tsuge I, Matsuoka H, Torii S et al. Preservation of natural killer and interleukin-2 activated killer cell activity in ataxia-telangiectasia with T cell deficiency. J. Clin. Lab. Immunol. 23, 7-13 (1987).
43. Berkel AI, Henle W, Henle G et al. Immune response to Epstein-Barr virus (EBV) in ataxia-telangiectasia: EBVspecific antibody patterns and their relation to cell-mediated immunity. Kroc. Found Ser. 19, 287-300 (1985).
44. Tran H, Nourse J, Hall S, Green M, Griffiths L, Gandhi MK. Immunodeficiency-associated lymphomas. Blood Rev. 22, 261-281 (2008).
45. Reyes C, Abuzaitoun O, De Jong A, Hanson C, Langston C. Epstein-Barr virus-associated smooth muscle tumors in ataxia-telangiectasia: a case report and review. Hum. Pathol. 33, 133-136 (2002).
46. Sanal O, Ozaltin F, Tezcan I et al. Serum IgD concentrations in patients with ataxia telangiectasia and with selective IgA deficiency. Int. Arch. Allergy Immunol. 116, 246 (1998).
47. Oxelius V-A, Berkel AI, Hanson LA et al. IgG2 deficiency in ataxia-telangiectasia. N. Engl. J. Med. 306, 515-517 (1982).
48. Ammann AJ, Cain WA, Ishizaka K, Hong R, Good RA. Immunoglobulin E deficiency in ataxia-telangiectasia. N. Engl. J. Med. 281, 469-472 (1969).
49. Ozkaragöz F, Yeniay I, Yein O, Sanal O, Ersoy F, Berkel AI. Serum IgE levels in patients with ataxia-telangiectasia. Turk J. Pediatr. 25, 125-128 (1983).
50. Sadighi Akha AA, Humphrey RL, Winkelstein JA, Loeb DM, Lederman HM. Oligo-/monoclonal gammopathy and hypergammaglobulinemia in ataxiatelangiectasia: a study of 90 patients. Medicine (Baltimore) 78, 370-381 (1999).
51. Etzioni A, Ben-Barak A, Peron S, Durandy A. Ataxia-telangiectasia in twins presenting as autosomal recessive hyperimmunoglobulin M syndrome. Isr. Med. Assoc. J. 9, 406-407 (2007).
52. Noordzij JG, Wulffraat N, Haraldsson A et al. Ataxia-telangiectasia patients presenting with hyper-IgM syndrome. Arch. Dis. Child. 94(6), 448-449 (2009).
53. Sanal O, Ersoy F, Yel L et al. Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia telangiectasia. J. Clin. Immunol. 19, 326-334 (1999).
54. Schubert R, Reichenbach J, Zielen S. Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia. Clin. Exp. Immunol. 129, 125-132 (2002).
55. Paganelli R, Scala E, Scarselli E et al. Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxiatelangiectasia. J. Clin. Immunol. 12, 84-91 (1992).
56. Carbonari M, Cherchi M, Paganelli R et al. Relative increase of T cells expressing the alpha/beta rather than the gamma/delta receptor in ataxia-telangiectasia. N. Engl. J. Med. 322, 73-76 (1990).
57. Micheli R, Pirovano S, Calandra G et al. Low thymic output and reduced heterogeneity of alpha/beta, but not gamma/delta, T lymphocytes in infants with ataxiatelangiectasia. Neuropediatrics 34, 165-167 (2003).
58. Giovanetti A, Mazzetta F, Caprini E et al. Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. Blood 100, 4082-4089 (2002).
59. Roifman CM, Gelfand EW. Heterogeneity of the immunological deficiency in ataxia-telangiectasia: absence of a clinical-pathological correlation. Kroc. Found. Ser. 19, 273-285 (1985).
60. Kojis TL, Gatti RA, Sparkes RS. The cytogenetics of ataxia- telangiectasia. Cancer Genet. Cytogenet. 56, 143-196 (1991).
61. Bredemyer AL, Sharma GG, Huang CY et al. ATM stabilizes DNA double-strandbreak complexes during V(D)J recombination. Nature 442, 466-470 (2006).
62. Reina-San-Martin B, Chen HT, Nussenzweig A, Nussenzweig MC. ATM is required for efficient recombination between immunoglobulin switch regions. J. Exp. Med. 200, 1103-1110 (2004).
63. Pan- Hammarstrom Q, Dai S, Zhao Y et al. ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch - region. J. Immunol. 170, 3707-3716 (2003).
64. Peterson RD, Kelly WD, Good RA. Ataxia-telangiectasia. Its association with a defective thymus, immunologicaldeficiency disease, and malignancy. Lancet 1, 1189-1193 (1964).
65. Bagley J, Singh G , Iacomini J. Regulation of oxidative stress responses by ataxiatelangiectasia mutated is required for T cell proliferation. J. Immunol. 178, 4757-4763 (2007).
66. Yan M, Zhu C, Liu N et al. ATM controls c-Myc and DNA synthesis during postnatal thymocyte development through regulation of redox state. Free Radic. Biol. Med. 41, 640-648 (2006).
67. Wu ZH, Shi Y, Tibetts RS, Miyamoto S. Molecular linkage between the kinase ATM and NF-B signalling in response to genotoxic stimuli. Science 311, 1141-1146 (2006).
68. Reichenbach J, Schubert R, Feinberg J et al. Impaired interferon-production in response to live bacteria and Toll-like receptor agonists in patients with ataxiatelangiectasia. Clin. Exp. Immunol. 146, 381-389 (2006).
69. Pashankar F, Singhal V, Akabogu I, Gatti RA, Goldman FD. Intact T cell responses in ataxia-telangiectasia. Clin. Immunol. 120, 156-162 (2006).
70. Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics 102, 98-100 (1998).
71. Boder E. Ataxia-telangiectasia: an overview. Kroc. Found. Ser. 19, 1-63 (1985).
72. Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T, Abrahamsen TG. Alpha fetoprotein is increasing with age in ataxia- telangiectasia. Eur. J. Paediatr. Neurol. 11, 375-380 (2007).
73. Wood P, Stanworth, S, Burton P et al. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin. Exp. Immunol. 149, 410-423 (2007).
74. Porcedda P, Turinetto V, Brusco A et al. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry A 73, 508-516 (2008).
75. Nahas SA, Butch AW, Du L, Gatti RA. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1). Phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin. Chem. 55(3), 463-472 (2009).
76. Picard C, Puel A, Bustamante J, Ku CL, Casanova JL. Primary immunodeficiencies associated with pneumococcal disease. Curr. Opin. Allergy Clin. Immunol. 3, 451-459 (2003).
77. Schubert R, Reichenbach J Rose M, Zielen S. Immunogenicity of the seven valent pneumococcal conjugate vaccine in patients with ataxia-telangiectasia. Ped. Inf. Dis. J. 23, 269-270 (2004).
78. Sanal O, Ersoy F, Tezcan I et al. Antibody response to a seven valent pneumococcal conjugate vaccine in patients with ataxia-telangiectasia. J. Clin. Immunol. 24, 411-417 (2004).
79. Stray-Pedersen A, Aaberge IS, Fruh A, Abrahamsen TG. Pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine; immunogenicity in patients with ataxia-telangiectasia. Clin. Exp. Immunol. 40, 507-516 (2005).
80. Davies EG, Ashton L, McDermott E, Core C, Taylor AMR, Goldblatt D. Immunogenicity of conjugate pneumococcal vaccine (Prevenar) in ataxia-telangiectasia: evidence of a genotype/phenotype correlation. Clin. Exp. Immunol. 154(Suppl. 1), 115-116 (2008) (Abstract).
81. Muñoz-Almagro C, Jordan I, Gene A, Latorre C, Garcia-Garcia JJ, Pallares R. Emergence of invasive pneumococcal disease caused by nonvaccine serotypes in the era of 7-valent conjugate vaccine. Clin. Infect. Dis. 46, 174-182 (2008).
82. Veenhoven RH, Bogaert D, Schilder AG et al. Nasopharyngeal pneumococcal carriage after combined pneumococcal conjugate and polysaccharide vaccination in children with a history of recurrent acute otitis media. Clin. Infect. Dis. 39, 911-919 (2004).
83. OBrien KL, Hochman M, Goldblatt D. Combined schedules of pneumococcal conjugate and polysaccharide vaccines: is hyporesponsiveness an issue? Lancet Infect. Dis. 7, 597-606 (2007).
84. Marin M, Güris D, Chaves SS, Schmid S, Seward JF; Advisory Committee on Immunization Practices, Centers for Disease Control and Prevention (CDC). Prevention of varicella: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm. Rep. 56, 1-40 (2007).
85. Pohl KR, Farley JD, Jan JE, Junker AK. Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis. J. Pediatr. 121, 405-407 (1992).
86. No authors listed. American Academy of Pediatrics. Committee on Infectious Diseases and Committee on Pediatric AIDS. Measles immunization in HIV-infected children. Pediatrics 103, 1057-1060 (1999).
87. Hahn T, Levin S, Handzel ZT. Leucocyte migration inhibition factor (LIF) production by lymphocytes of normal children, newborns, and children with immune deficiency. Clin. Exp. Immunol. 24, 448-454 (1976).
88. Saiman L, Marshall BC, Mayer-Hamblett M et al. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa. JAMA 290, 1749-1756 (2003).
89. Murphy BS, Sundareshan V, Cory TJ, Hayes D Jr, Anstead MI, Feola DJ. Azithromycin alters macrophage phenotype. J. Antimicrob. Chemother. 61, 554-560 (2008).
90. Chapel HM, Spickett GP, Ericson D, Engl W, Eibl MM, Bjorkander J. The comparison of the efficacy and safety of intravenous versus subcutaneous immunoglobulin replacement therapy. J. Clin. Immunol. 20, 94-100 (2000).
91. McGrath-Morrow S, Lefton-Greif M, Rosquist K et al. Pulmonary function in adolescents with ataxia telangiectasia. Pediatr. Pulmonol. 43, 59-66 (2008).
92. McGrath-Morrow SA, Sterni L, McGinley B, Lefton-Greif MA, Rosquist K, Lederman H. Polysomnographic values in adolescents with ataxia telangiectasia. Pediatr. Pulmonol. 43, 674-679 (2008).
93. Samson-Fang L, Butler C, ODonnell M. Effects of gastrostomy feeding in children with cerebral palsy: an AACPDM evidence report. Dev. Med. Child Neurol. 45, 415-426 (2003).
94. Bach JR, Ishikawa Y, Kim H. Prevention of pulmonary morbidity for patients with Duchenne muscular dystrophy. Chest 112, 1024-1028 (1997).
95. Verhagen MM, van Deuren M, Willemsen MA et al. Ataxia-telangiectasia and mechanical ventilation: a word of caution. Pediatr. Pulmonol. 44, 101-102 (2009).
96. Sigurdardottir ST, Davidsdottir K, Arason VA et al. Safety and immunogenicity of CRM197-conjugated pneumococcalmeningococcal C combination vaccine (9vPnC-MnCC) whether given in two or three primary doses. Vaccine 26, 4178-4186 (2008).
97. Capeding MZ, Puumalainen T, Gepanayao CP, Käyhty H, Lucero MG, Nohynek H. Safety and immunogenicity of three doses of an eleven-valent diphtheria toxoidand tetanus protein-conjugated pneumococcal vaccine in Filipino infants. BMC Infect. Dis. 3, 17 (2003).
98. Scott D, Ruckle J, Dar M, Baker S, Kondoh H, Lockhart S. Phase 1 trial of 13-valent pneumococcal conjugate vaccine in Japanese adults. Pediatr. Int. 50, 295-299 (2008).
99. Chen P, Peng C, Luff J et al. Oxidative stress is responsible for deficient survival and dendritogenesis in Purkinje neurons from ataxia-telangiectasia mutated mutant mice. J. Neurosci. 23, 11453-11460 (2003).
100. Gueven N, Luff J, Peng C, Hosokawa K, Bottle SE, Lavin MF. Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atmmutant mice with a nitroxide antioxidant. Free Radic. Biol. Med. 41, 992-1000 (2006).
101. Lederman HM, Crawford TO, McGrath- Morrow S, Lefton-Greif M, Rosquist K, Meyer A. Oxidative stress in ataxiatelangiectasia (Abstract). Presented at: International Workshop on Ataxia- Telangiectasia (A-T) and ATM. Banff, Alberta, Canada, 8-12 September 2006.
102. Buoni S, Zannoli R, Sorrentino L, Fois A. Betamethasone and improvement of neurological symptoms in ataxiatelangiectasia. Arch. Neurol. 63, 1479-1482 (2006).
103. Broccoletti T, Del Giudice E, Amorosi S et al. Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients. Eur. J. Neurol. 15, 223-228 (2008).
104. Lai CH, Chun HH, Nahas SA et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc. Natl Acad. Sci. USA 101, 15676-15681 (2004).
105. Du L, Pollard JM, Gatti RA. Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc. Natl Acad. Sci. USA 104, 6007-6012 (2007).
106. Buckley RH. Bone marrow and thymus transplantation in ataxia-telangiectasia. Birth Defects Orig. Artic. Ser. 11, 421-424 (1975).
107. Bagley J, Cortes ML, Breakefield XO, Iacomini J. Bone marrow transplantation restores immune system function and prevents lymphoma in Atm-deficient mice. Blood 104, 572-578 (2004).
108. Straathof KC, Rao K, Eyrich M et al. Haemopoietic stem cell transplantation with antibody-based minimal intensity conditioning. Lancet (2009) (In Press).