Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Amarilla B. Mandola1,2, Brenda Reid1,2, Raga Sirror3, Rae Brager4, Peter B. Dent4, Pranesh Chakroborty5, Dennis E. Bulman5, Chaim M. Roifman1,2
1Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada
2The Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, the Hospital for Sick Children, Toronto, ON, Canada
3Paediatric Allergy/Immunology, Thunder Bay Regional Health Sciences Center, North Ontario School of Medicine, Thunder Bay, ON, Canada
4Division of Rheumatology, Immunology, and Allergy, Department of Paediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada
5Department of Pediatrics, CHEO Research Institute and Newborn Screening Ontario, University of Ottawa, Ottawa, ON, Canada

Tóm tắt

Từ khóa


Tài liệu tham khảo

McKinnon, 2012, ATM and the molecular pathogenesis of ataxia telangiectasia, Ann Rev Pathol., 7, 303, 10.1146/annurev-pathol-011811-132509

Ambrose, 2013, Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions, Blood., 121, 4036, 10.1182/blood-2012-09-456897

Schon, 2019, Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia, Ann Neurol, 85, 170, 10.1002/ana.25394

Seidel, 2019, The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity, J Aller Clin Immun, 7, 1763, 10.1016/j.jaip.2019.02.004

Bredemeyer, 2006, ATM stabilizes DNA double-strand-break complexes during V(D)J recombination, Nature., 442, 466, 10.1038/nature04866

Borte, 2012, Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR, Blood., 119, 2552, 10.1182/blood-2011-08-371021

Lumsden, 2004, Immunoglobulin class switch recombination is impaired in atm-deficient mice, J Exp Med., 200, 1111, 10.1084/jem.20041074

Reina-San-Martin, 2004, ATM is required for efficient recombination between immunoglobulin switch regions, J Exp Med., 200, 1103, 10.1084/jem.20041162

van Os, 2018, Ataxia-telangiectasia: immunodeficiency and survival, Clin Immunol, 178, 45, 10.1016/j.clim.2017.01.009

Azarsiz, 2014, Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with Ataxia-telangiectasia?, Int J Immunopathol Pharmacol, 27, 421, 10.1177/039463201402700312

Aghamohammadi, 2010, Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome, J Investig Allergol Clin Immunol, 20, 442

Noordzij, 2009, Ataxia-telangiectasia patients presenting with hyper-IgM syndrome, Arch Dis Child, 94, 448, 10.1136/adc.2008.149351

Minto, 2019, A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas, Clin Immunol, 200, 55, 10.1016/j.clim.2019.01.002

Rothblum-Oviatt, 2016, Ataxia telangiectasia: a review, Orphanet J Rare Dis., 11, 1, 10.1186/s13023-016-0543-7

Nowak-Wegrzyn, 2004, Immunodeficiency and infections in ataxia-telangiectasia, J Pediatr., 144, 505, 10.1016/j.jpeds.2003.12.046

Kamae, 2013, Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles, J Allergy Clin Immunol., 131, 1437, 10.1016/j.jaci.2012.10.059

de Felipe, 2016, Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville, Pediatr Allergy Immunol., 27, 70, 10.1111/pai.12501

Nourizadeh, 2018, Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran, Scand J Immunol, 2018, e12699, 10.1111/sji.12699

Driessen, 2013, 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., 131, 1367, 10.1016/j.jaci.2013.01.053

Suresh, 2019, Time-dependent decline of T-cell receptor excision circle levels in ZAP-70 deficiency, J Allergy Clin Immunol Pract, 10.1016/j.jaip.2019.08.018

Sharfe, 2014, Fatal combined immunodeficiency associated with heterozygous mutation in STAT1, J Aller Clin Immunol., 133, 807, 10.1016/j.jaci.2013.09.032

Stavropoulos, 2016, Whole genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine, NPJ Genom Med., 1, 15012, 10.1038/npjgenmed.2015.12

Wang, 2010, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Res., 38, e164, 10.1093/nar/gkq603

Boyle, 2007, Population prevalence of diagnosed primary immunodeficiency diseases in the United States, J Clini Immunol., 27, 497, 10.1007/s10875-007-9103-1

Modell, 2018, 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., 66, 367, 10.1007/s12026-018-8996-5

Bousfiha, 2013, Primary immunodeficiency diseases worldwide: more common than generally thought, J Clin Immunol., 33, 1, 10.1007/s10875-012-9751-7

Teive, 2015, Ataxia-telangiectasia - a historical review and a proposal for a new designation: ATM syndrome, J Neurol Sci., 355, 3, 10.1016/j.jns.2015.05.022

Kwan, 2015, History and current status of newborn screening for severe combined immunodeficiency, Semin Perinatol., 39, 194, 10.1053/j.semperi.2015.03.004

Biggs, 2017, Newborn screening for severe combined immunodeficiency: a primer for clinicians, CMAJ, 189, E1551, 10.1503/cmaj.170561

Reid, 2017, Managing newborn screening for SCID in a referral centre, LymphoSign J, 4, 77, 10.14785/lymphosign-2017-0005

Mallott, 2013, Newborn screening for SCID identifies patients with ataxia telangiectasia, J Clin Immunol, 33, 540, 10.1007/s10875-012-9846-1

Cousin, 2018, Utility of DNA, RNA, protein, and functional approaches to solve cryptic immunodeficiencies, J Clin Immunol, 38, 307, 10.1007/s10875-018-0499-6