OBJECTIVE: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA). RESULTS: Around 6,881 samples from newborns were collected and TRECs and KRECs were quantified. The TRECs values ranged between 1 and 1,006 TRECs/µL, with mean and median of 160 and 139 TRECs/µL, respectively. Three samples from patients with severe combined immunodeficiency (SCID) showed TRECs below 4/µL and a patient with DiGeorge syndrome showed undetectable TRECs. KRECs values ranged from 10 to 1,097 KRECs/µL, with mean and median of 130 and 108 KRECs/µL. Four patients with agammaglobulinemia had results below 4 KRECs/µL. The cutoff values were 15 TRECs/µL and 14 KRECs/µL and were established according to the receiver operating characteristic curve analysis, with 100% sensitivity for SCID and agammaglobulinemia detection, respectively. CONCLUSIONS: Quantification of TRECs and KRECs was able to diagnose children with T- and/or B-cell lymphopenia in our study, which validated the technique in Brazil and enabled us to implement the newborn screening program for SCID and agammaglobulinemia.
OBJECTIVE: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA). RESULTS: Around 6,881 samples from newborns were collected and TRECs and KRECs were quantified. The TRECs values ranged between 1 and 1,006 TRECs/µL, with mean and median of 160 and 139 TRECs/µL, respectively. Three samples from patients with severe combined immunodeficiency (SCID) showed TRECs below 4/µL and a patient with DiGeorge syndrome showed undetectable TRECs. KRECs values ranged from 10 to 1,097 KRECs/µL, with mean and median of 130 and 108 KRECs/µL. Four patients with agammaglobulinemia had results below 4 KRECs/µL. The cutoff values were 15 TRECs/µL and 14 KRECs/µL and were established according to the receiver operating characteristic curve analysis, with 100% sensitivity for SCID and agammaglobulinemia detection, respectively. CONCLUSIONS: Quantification of TRECs and KRECs was able to diagnose children with T- and/or B-cell lymphopenia in our study, which validated the technique in Brazil and enabled us to implement the newborn screening program for SCID and agammaglobulinemia.
Authors: Mei Wang Baker; Ronald H Laessig; Murray L Katcher; John M Routes; William J Grossman; James Verbsky; Daniel F Kurtycz; Charles D Brokopp Journal: Public Health Rep Date: 2010 May-Jun Impact factor: 2.792
Authors: Catherine Kubiak; Soma Jyonouchi; Caroline Kuo; Maria Garcia-Lloret; Morna J Dorsey; John Sleasman; Arthur S Zbrozek; Elena E Perez Journal: J Allergy Clin Immunol Pract Date: 2014-08-28
Authors: Antonia Kwan; Roshini S Abraham; Robert Currier; Amy Brower; Karen Andruszewski; Jordan K Abbott; Mei Baker; Mark Ballow; Louis E Bartoshesky; Francisco A Bonilla; Charles Brokopp; Edward Brooks; Michele Caggana; Jocelyn Celestin; Joseph A Church; Anne Marie Comeau; James A Connelly; Morton J Cowan; Charlotte Cunningham-Rundles; Trivikram Dasu; Nina Dave; Maria T De La Morena; Ulrich Duffner; Chin-To Fong; Lisa Forbes; Debra Freedenberg; Erwin W Gelfand; Jaime E Hale; I Celine Hanson; Beverly N Hay; Diana Hu; Anthony Infante; Daisy Johnson; Neena Kapoor; Denise M Kay; Donald B Kohn; Rachel Lee; Heather Lehman; Zhili Lin; Fred Lorey; Aly Abdel-Mageed; Adrienne Manning; Sean McGhee; Theodore B Moore; Stanley J Naides; Luigi D Notarangelo; Jordan S Orange; Sung-Yun Pai; Matthew Porteus; Ray Rodriguez; Neil Romberg; John Routes; Mary Ruehle; Arye Rubenstein; Carlos A Saavedra-Matiz; Ginger Scott; Patricia M Scott; Elizabeth Secord; Christine Seroogy; William T Shearer; Subhadra Siegel; Stacy K Silvers; E Richard Stiehm; Robert W Sugerman; John L Sullivan; Susan Tanksley; Millard L Tierce; James Verbsky; Beth Vogel; Rosalyn Walker; Kelly Walkovich; Jolan E Walter; Richard L Wasserman; Michael S Watson; Geoffrey A Weinberg; Leonard B Weiner; Heather Wood; Anne B Yates; Jennifer M Puck; Vincent R Bonagura Journal: JAMA Date: 2014-08-20 Impact factor: 56.272
Authors: Mei W Baker; William J Grossman; Ronald H Laessig; Gary L Hoffman; Charles D Brokopp; Daniel F Kurtycz; Michael F Cogley; Thomas J Litsheim; Murray L Katcher; John M Routes Journal: J Allergy Clin Immunol Date: 2009-05-31 Impact factor: 10.793
Authors: Jet van der Spek; Rolf H H Groenwold; Mirjam van der Burg; Joris M van Montfrans Journal: J Clin Immunol Date: 2015-04-17 Impact factor: 8.317
Authors: Burcu Bestas; Janne J Turunen; K Emelie M Blomberg; Qing Wang; Robert Månsson; Samir El Andaloussi; Anna Berglöf; C I Edvard Smith Journal: Curr Allergy Asthma Rep Date: 2015-03 Impact factor: 4.806
Authors: Juliana Folloni Fernandes; Samantha Nichele; Liane E Daudt; Rita B Tavares; Adriana Seber; Fábio R Kerbauy; Adriana Koliski; Gisele Loth; Ana K Vieira; Luiz G Darrigo-Junior; Vanderson Rocha; Alessandra A Gomes; Vergílio Colturato; Luiz F Mantovani; Andreza F Ribeiro; Lisandro L Ribeiro; Cilmara Kuwahara; Ana L M Rodrigues; Victor G Zecchin; Beatriz T Costa-Carvalho; Magda Carneiro-Sampaio; Antonio Condino-Neto; Anders Fasth; Andrew Gennery; Ricardo Pasquini; Nelson Hamerschlak; Carmem Bonfim Journal: J Clin Immunol Date: 2018-11-24 Impact factor: 8.317
Authors: Maartje Blom; Rolf H Zetterström; Asbjørg Stray-Pedersen; Kimberly Gilmour; Andrew R Gennery; Jennifer M Puck; Mirjam van der Burg Journal: J Allergy Clin Immunol Date: 2021-09-16 Impact factor: 14.290
Authors: Lucila A Barreiros; Gesmar R S Segundo; Anete S Grumach; Pérsio Roxo-Júnior; Troy R Torgerson; Hans D Ochs; Antonio Condino-Neto Journal: Front Pediatr Date: 2018-08-20 Impact factor: 3.418
Authors: Cristina Meehan; Carmem Bonfim; Joseph F Dasso; Beatriz Tavares Costa-Carvalho; Antonio Condino-Neto; Jolan Walter Journal: Rev Paul Pediatr Date: 2018 Oct-Dec
Authors: Maria Giżewska; Katarzyna Durda; Theresa Winter; Iwona Ostrowska; Mariusz Ołtarzewski; Jeannette Klein; Oliver Blankenstein; Hanna Romanowska; Elżbieta Krzywińska-Zdeb; Michał Filip Patalan; Elżbieta Bartkowiak; Natalia Szczerba; Stefan Seiberling; Bożena Birkenfeld; Matthias Nauck; Horst von Bernuth; Christian Meisel; Ewa Anna Bernatowska; Mieczysław Walczak; Małgorzata Pac Journal: Front Immunol Date: 2020-10-16 Impact factor: 7.561
Authors: Maartje Blom; Robbert G M Bredius; Marleen E Jansen; Gert Weijman; Evelien A Kemper; Clementien L Vermont; Iris H I M Hollink; Willem A Dik; Joris M van Montfrans; Mariëlle E van Gijn; Stefanie S Henriet; Koen J van Aerde; Wouter Koole; Arjan C Lankester; Eugènie H B M Dekkers; Peter C J I Schielen; Martine C de Vries; Lidewij Henneman; Mirjam van der Burg Journal: J Clin Immunol Date: 2020-10-18 Impact factor: 8.317