Applying T-cell receptor excision circles and immunoglobulin κ-deleting recombination excision circles to patients with primary immunodeficiency diseases

References

• Douek DC, Vescio RA, Betts MR, Brenchley JM, Hill BJ, Zhang L, et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet. 2000;355:1875–81.
   PubMed Web of Science ®Google Scholar
• Verschuren MC, Wolvers-Tettero IL, Breit TM, Noordzij J, van Wering ER, van Dongen JJ. Preferential rearrangements of the T cell receptor-delta-deleting elements in human T cells. J Immunol. 1997;158:1208–16.
   PubMed Web of Science ®Google Scholar
• Siminovitch KA, Bakhshi A, Goldman P, Korsmeyer SJ. A uniform deleting element mediates the loss of kappa genes in human B cells. Nature. 1985;316:260–2.
   PubMed Web of Science ®Google Scholar
• van Zelm MC, Szczepanski T, van der Burg M, van Dongen JJ. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med. 2007;204:645–55.
   PubMedGoogle Scholar
• Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115:391–8.
   PubMed Web of Science ®Google Scholar
• Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009;302:2465–70.
   PubMed Web of Science ®Google Scholar
• Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr. 2009;155:829–33.
   Google Scholar
• Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009;124:522–7.
   PubMed Web of Science ®Google Scholar
• Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54.
   PubMed Web of Science ®Google Scholar
• Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;22:162.
   Google Scholar
• Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, et al.; workshop participants. Primary Immune Deficiency Treatment Consortium (PIDTC) report. J Allergy Clin Immunol. 2014;133:35–47.
   Google Scholar
• Borte S, von Döbeln U, Fasth A, Wang N, Janzi M, Winiarski J, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012; 119:2552–5.
   PubMed Web of Science ®Google Scholar
• Lee WI, Kuo ML, Huang JL, Lin SJ, Wu CJ. Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. J Clin Immunol. 2005;25:162–73.
   PubMed Web of Science ®Google Scholar
• Lee WI, Jaing TH, Hsieh MY, Kuo ML, Lin SJ, Huang JL. Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan. J Clin Immunol. 2006;26:274–83.
   PubMed Web of Science ®Google Scholar
• Lee WI, Huang JL, Jaing TH, Shyur SD, Yang KD, Chien YH, et al. Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010. Immunobiology.2011;216:1286–94.
   Google Scholar
• Lee WI, Huang JL, Yeh KW, Yang MJ, Lai MC, Chen LC, et al. Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype. Pediatr Infect Dis J. 2013;32:1010–16.
   PubMed Web of Science ®Google Scholar
• Douek DC, McFarland RD, Keiser PH, Gage EA, Massey JM, Haynes BF, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature. 1998;396:690–5.
   PubMed Web of Science ®Google Scholar
• Hazenberg MD, Otto SA, de Pauw ES, Roelofs H, Fibbe WE, Hamann D, et al. T-cell receptor excision circle and T-cell dynamics after allogeneic stem cell transplantation are related to clinical events. Blood. 2002;99:3449–53.
   PubMed Web of Science ®Google Scholar
• Lipstein EA, Vorono S, Browning MF, Green NS, Kemper AR, Knapp AA, et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics. 2010;125: e1226–35.
   PubMed Web of Science ®Google Scholar
• Kildebeck E, Checketts J, Porteus M. Gene therapy for primary immunodeficiencies. Curr Opin Pediatr. 2012;24:731–8.
   Google Scholar
• de la Morena MT, Nelson RP Jr. Recent advances in transplantation for primary immune deficiency diseases: a comprehensive review. Clin Rev Allergy Immunol. 2014;46:131–44.
   Google Scholar
• Horn B, Cowan MJ. Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects. J Allergy Clin Immunol. 2013;131:1306–11.
   PubMed Web of Science ®Google Scholar
• Cavazzana-Calvo M, André-Schmutz I, Fischer A. Haematopoietic stem cell transplantation for SCID patients: where do we stand? Br J Haematol. 2013;160:146–52.
   Google Scholar
• Pieper K, Grimbacher B, Eibel H. B-cell biology and development. J Allergy Clin Immunol. 2013;131:959–71.
   PubMed Web of Science ®Google Scholar
• Bonagura VR. Using intravenous immunoglobulin (IVIG) to treat patients with primary immune deficiency disease. J Clin Immunol. 2013;33:S90–4.
   PubMed Web of Science ®Google Scholar
• Schroeder HW Jr, Dougherty CJ. Review of intravenous immunoglobulin replacement therapy trials for primary humoral immunodeficiency patients. Infection. 2012;40:601–11.
   PubMed Web of Science ®Google Scholar
• Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317:617–19.
   PubMed Web of Science ®Google Scholar
• McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90:1–18.
   PubMed Web of Science ®Google Scholar
• Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, et al. A deletion and duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet. 2009;10:48.
   Google Scholar
• Markert ML, Hummell DS, Rosenblatt HM, Schiff SE, Harville TO, Williams LW, et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr. 1998;132:15–21.
   PubMed Web of Science ®Google Scholar
• Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, et al. Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clin Immunol. 2011;141:128–32.
   PubMed Web of Science ®Google Scholar
• Lee WI, Huang JL, Lin SJ, Yeh KW, Chen LC, Ou LS, et al. Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES). Immunobiology. 2011;216:909–17.
   Google Scholar
• Al-Mousa H, Hawwari A, Alsum Z. In DOCK8 deficiency donor cell engraftment post-geno-identical hematopoietic stem cell transplantation is possible without conditioning. J Allergy Clin Immunol. 2013;131:1244–5.
   Google Scholar
• Ghosh S, Schuster FR, Fuchs I, Laws HJ, Borkhardt A, Meisel R. Treosulfan-based conditioning in DOCK8 deficiency: complete lympho-hematopoietic reconstitution with minimal toxicity. Clin Immunol. 2012;145:259–61.
   PubMed Web of Science ®Google Scholar
• Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, et al. Defining combined immunodeficiency. J Allergy Clin Immunol. 2012;130:177–83.
   PubMed Web of Science ®Google Scholar
• Ijspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, et al. Similar recombination-activating gene (RAG) mutations result in similar immuno-biological effects but in different clinical phenotypes. J Allergy Clin Immunol. 2014;13: 1848–4.
   Google Scholar
• la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, et al. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. J Allergy Clin Immunol. 2013;131:1604–10.
   PubMed Web of Science ®Google Scholar
• Verbsky J, Thakar M, Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012;129:622–7.
   PubMed Web of Science ®Google Scholar
• Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, et al. Newborn screening for severe combined immunodeficiency: the Wisconsin experience (2008–2011). J Clin Immunol. 2012; 32:82–8.
   PubMed Web of Science ®Google Scholar
• Gathmann B, Binder N, Ehl S, Kindle G; ESID Registry Working Party. The European internet-based patient and research database for primary immunodeficiencies: update2011. Clin Exp Immunol.2012; 167:479–91.
   Web of Science ®Google Scholar
• Chapel H. Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) Expert Committee on Primary Immunodeficiency2011. Clin Exp Immunol.2012;168:58–9.
   Google Scholar
• Goldacker S, Warnatz K. Tackling the heterogeneity of CVID. Curr Opin Allergy Clin Immunol. 2005;5:504–9.
   PubMed Web of Science ®Google Scholar
• Baldovino S, Montin D, Martino S, Sciascia S, Menegatti E, Roccatello D. Common variable immunodeficiency: crossroads between infections, inflammation and autoimmunity. Autoimmun Rev. 2013; 12:796–801.
   PubMed Web of Science ®Google Scholar
• Salzer U, Warnatz K, Peter HH. Common variable immunodeficiency - an update. Arthritis Res Ther. 2012;14:223.
   PubMed Web of Science ®Google Scholar
• Boursiquot JN, Gérard L, Malphettes M, Fieschi C, Galicier L, Boutboul D, et al.; DEFI study group. Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. J Clin Immunol. 2013;33:84–95.
   PubMed Web of Science ®Google Scholar
• Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, et al. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol. 2013;131:1437–40.e5.
   PubMed Web of Science ®Google Scholar
• Howard V, Myers LA, Williams DA, Wheeler G, Turner EV, Cunningham JM, et al. Stem cell transplants for patients with X-linked agammaglobulinemia. Clin Immunol. 2003;107:98–102.
   PubMedGoogle Scholar
• Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132:140–50.
   PubMed Web of Science ®Google Scholar
• Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al.; Pediatric AIDS Clinical Trials Group. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112:973–80.
   PubMed Web of Science ®Google Scholar
• Schatorjé EJ, Gemen EF, Driessen GJ, Leuvenink J, van Hout RW, van der Burg M, et al. Age-matched reference values for B-lymphocyte subpopulations and CVID classifications in children. Scand J Immunol. 2011;74:502–10.
   PubMed Web of Science ®Google Scholar