Causes of low neonatal T-cell receptor excision circles: A systematic review

The Journal of Allergy and Clinical Immunology: In Practice - Tập 5 Số 5 - Trang 1457-1460.e22 - 2017
Andrea Mauracher1, Fabio Pagliarulo1, Livia Faes2, Stefano Vavassori1, Tayfun Güngör3, Lucas M. Bachmann2, Jana Pachlopnik Schmid1,4
1Division of Immunology, University Children's Hospital Zurich, Children's Research Center (CRC), Zurich, Switzerland
2Medignition Inc. Research Consultants, Zurich, Switzerland
3Division of Stem Cell Transplantation, University Children's Hospital Zurich, Children's Research Center (CRC), Zurich, Switzerland
4University of Zurich, Zurich, Switzerland

Tóm tắt

Từ khóa


Tài liệu tham khảo

Dvorak, 2008, Hematopoietic stem cell transplantation for primary immunodeficiency disease, Bone Marrow Transplant, 41, 119, 10.1038/sj.bmt.1705890

Puck, 2012, Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles, J Allergy Clin Immunol, 129, 607, 10.1016/j.jaci.2012.01.032

Chan, 2011, Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey, Clin Immunol, 138, 3, 10.1016/j.clim.2010.09.010

Brown, 2011, Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening, Blood, 117, 3243, 10.1182/blood-2010-08-300384

Bhatti, 2014, Newborn TREC screening identified an infant with NHEJ1 heterozygous mutation leading to the diagnosis of atypical radiosensitive SCID, Ann Allergy Asthma Immunol, 113, A87

Picard, 2015, Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015, J Clin Immunol, 35, 696, 10.1007/s10875-015-0201-1

Tierce, 2013, TREC <30 in infants without SCID as a marker for high mortality, J Allergy Clin Immunol, 131, AB73, 10.1016/j.jaci.2012.12.925

van der Spek, 2015, TREC based newborn screening for severe combined immunodeficiency disease: a systematic review, J Clin Immunol, 35, 416, 10.1007/s10875-015-0152-6

Routes, 2009, Statewide newborn screening for severe T-cell lymphopenia, JAMA, 302, 2465, 10.1001/jama.2009.1806

Pachlopnik Schmid, 2014, Modern management of primary T-cell immunodeficiencies, Pediatr Allergy Immunol, 25, 300, 10.1111/pai.12179

Accetta, 2011, Cause of death in neonates with inconclusive or abnormal T-cell receptor excision circle assays on newborn screening, J Clin Immunol, 31, 962, 10.1007/s10875-011-9591-x

Amariglio, 2010, Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency, Pediatr Res, 67, 211, 10.1203/PDR.0b013e3181c6e554

Bayer, 2014, Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray, Clin Exp Immunol, 178, 459, 10.1111/cei.12421

Borte, 2014, Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome, Clin Immunol, 155, 74, 10.1016/j.clim.2014.09.003

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

Buchbinder, 2013, Newborn screening for severe combined immunodeficiency: an opportunity for intervention, J Perinatol, 33, 657, 10.1038/jp.2013.30

Buckley, 2012, The long quest for neonatal screening for severe combined immunodeficiency, J Allergy Clin Immunol, 129, 597, 10.1016/j.jaci.2011.12.964

Cattaneo, 2013, Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment, J Allergy Clin Immunol, 131, 1136, 10.1016/j.jaci.2012.12.667

Chan, 2005, Development of population-based newborn screening for severe combined immunodeficiency, J Allergy Clin Immunol, 115, 391, 10.1016/j.jaci.2004.10.012

Chien, 2015, Incidence of severe combined immunodeficiency through newborn screening in a Chinese population, J Formos Med Assoc, 114, 12, 10.1016/j.jfma.2012.10.020

Comeau, 2010, Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency, J Inherit Metab Dis, 33, S273, 10.1007/s10545-010-9103-9

Dasouki, 2011, 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, 141, 128, 10.1016/j.clim.2011.06.003

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

Fronkova, 2014, The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome, PLoS One, 9, e114514, 10.1371/journal.pone.0114514

Giampietro, 2013, Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia, Am J Med Genet A, 161A, 1432, 10.1002/ajmg.a.35885

Gul, 2015, Neonatal levels of T-cell receptor excision circles (TREC) in patients with 22q11.2 deletion syndrome and later disease features, J Clin Immunol, 35, 408, 10.1007/s10875-015-0153-5

Jilkina, 2014, Retrospective TREC testing of newborns with severe combined immunodeficiency and other primary immunodeficiency diseases, Mol Genet Metabolism Rep, 1, 324, 10.1016/j.ymgmr.2014.07.003

Kanegae, 2016, Neonatal screening for severe combined immunodeficiency in Brazil, J Pediatr (Rio J), 92, 374, 10.1016/j.jped.2015.10.006

Kwan, 2013, Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years, J Allergy Clin Immunol, 132, 140, 10.1016/j.jaci.2013.04.024

Kwan, 2014, Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States, JAMA, 312, 729, 10.1001/jama.2014.9132

Kwan, 2015, Successful newborn screening for SCID in the Navajo Nation, Clin Immunol, 158, 29, 10.1016/j.clim.2015.02.015

la Marca, 2013, Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency, J Allergy Clin Immunol, 131, 1604, 10.1016/j.jaci.2012.08.054

la Marca, 2014, Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots, J Allergy Clin Immunol, 134, 155, 10.1016/j.jaci.2014.01.040

Ladinsky, 2013, Thoracic duct injury resulting in abnormal newborn screen, J Allergy Clin Immunol Pract, 1, 583, 10.1016/j.jaip.2013.09.007

Lingman Framme, 2014, Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome, J Clin Immunol, 34, 514

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

McGhee, 2005, Two-tiered universal newborn screening strategy for severe combined immunodeficiency, Mol Genet Metab, 86, 427, 10.1016/j.ymgme.2005.09.005

Morinishi, 2009, Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards, J Pediatr, 155, 829, 10.1016/j.jpeds.2009.05.026

Myers, 2002, Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival, Blood, 99, 872, 10.1182/blood.V99.3.872

Nourizadeh, 2015, A new IL-2RG gene mutation in an X-linked SCID identified through TREC/KREC screening: a case report, Iranian J Allergy Asthma Immunol, 14, 457

Patel, 2015, Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECS), J Allergy Clin Immunol, 135, AB14, 10.1016/j.jaci.2014.12.979

Roifman, 2012, Defining combined immunodeficiency, J Allergy Clin Immunol, 130, 177, 10.1016/j.jaci.2012.04.029

Rosenzweig, 2013, Laboratory evaluation for T-cell dysfunction, J Allergy Clin Immunol, 131, 622, 10.1016/j.jaci.2012.11.018

Routes, 2009, Statewide newborn screening for severe T-cell lymphopenia, JAMA, 302, 2465, 10.1001/jama.2009.1806

Somech, 2009, Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells, J Allergy Clin Immunol, 124, 793, 10.1016/j.jaci.2009.06.048

Somech, 2013, Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study, Isr Med Assoc J, 15, 404

Verbsky, 2012, Newborn screening for severe combined immunodeficiency: the Wisconsin experience (2008-2011), J Clin Immunol, 32, 82, 10.1007/s10875-011-9609-4

Verbsky, 2012, The Wisconsin approach to newborn screening for severe combined immunodeficiency, J Allergy Clin Immunol, 129, 622, 10.1016/j.jaci.2011.12.004

Vicetti Miguel, 2016, Cytomegalovirus meningitis in an infant with severe combined immunodeficiency, J Pediatr, 173, 235, 10.1016/j.jpeds.2016.02.054

Vogel, 2014, Newborn screening for SCID in New York State: experience from the first two years, J Clin Immunol, 34, 289, 10.1007/s10875-014-0006-7

Ward, 2013, Challenges of newborn severe combined immunodeficiency screening among premature infants, Pediatrics, 131, e1298, 10.1542/peds.2012-1921

Yin, 2015, Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome, J Clin Immunol, 35, 435, 10.1007/s10875-015-0171-3

Abghari, 2015, Persistent T cell lymphopenia: an algorithm for follow up care, J Allergy Clin Immunol, 135, AB12, 10.1016/j.jaci.2014.12.972

Albin, 2014, Infants with idiopathic T cell lymphopenia identified on New York state newborn screen: a follow up report, J Allergy Clin Immunol, 133, AB93, 10.1016/j.jaci.2013.12.348

Aleem, 2014, Newborn screening for severe combined immunodeficiency in Iowa: results of a one year pilot study, Ann Allergy Asthma Immunol, 113, A22

Andreae, 2013, Case of cartilage-hair hypoplasia detected by New York State newborn screening for severe combined immunodeficiency, Ann Allergy Asthma Immunol, 111, A96

Andreae, 2014, Studies on cohort of infants with Di-george syndrome detected by New York state newborn screening for severe combined immunodeficiency (SCID), J Allergy Clin Immunol, 133, AB96, 10.1016/j.jaci.2013.12.356

Bayer, 2013, Atypical SCID with CD4 lymphopenia, hypergammaglobulinemia, and neutropenia presenting with disseminated vaccine-strain varicella and rubella infections, J Clin Immunol, 33, 694

Bhatti, 2014, Newborn TREC screening identified an infant with NHEJ1 heterozygous mutation leading to the diagnosis of atypical radiosensitive SCID, Ann Allergy Asthma Immunol, 113, A87

Bornstein, 2014, Lymphopenia and agammaglobulinemia of unclear etiology, Ann Allergy Asthma Immunol, 113, A77

Borte, 2012, Combined neonatal screening for SCID and XLA using TRECs and KRECs, J Clin Immunol, 32, S252

Buyantseva, 2013, Mosaic monosomy 7 is associated with an abnormal TREC screen, Ann Allergy Asthma Immunol, 111, A98

Canessa, 2013, BCGitis and vaccine-derived poliovirus infection in a patient with a novel deletion in RAG1 binding site, Int J Immunopathol Pharmacol, 26, 511, 10.1177/039463201302600225

Chan, 2013, TREC newborn screening can identify patients with leaky SCID and may improve outcome, J Allergy Clin Immunol, 131, AB231, 10.1016/j.jaci.2012.12.1491

Čižnár, 2014, SCID before and after neonatal BCG vaccination in Slovakia, J Clin Immunol, 34, 700

Crestani, 2015, A case of leaky SCID with variable presentation in two siblings identified by newborn screening, J Allergy Clin Immunol, 135, AB15, 10.1016/j.jaci.2014.12.981

Dvorak, 2013, The natural history of children with severe combined immunodeficiency disease (SCID): the first fifty patients of the primary immune deficiency treatment consortium (PIDTC) prospective study 6901, Biol Blood Marrow Transplant, 19, S161, 10.1016/j.bbmt.2012.11.125

Dy, 2013, X-linked severe combined immunodeficiency secondary to IL-2 receptor mutation in a newborn infant, Ann Allergy Asthma Immunol, 111, A87

Galowitz, 2015, Newborn screening for severe combined immunodeficiency in Delaware: results of the first 3 years, J Allergy Clin Immunol, 135, AB14, 10.1016/j.jaci.2014.12.980

Grazioli, 2014, Limitation of TREC-based newborn screening for ZAP70 deficiency, J Clin Immunol, 34, 372

Greemberg, 2016, A call for an early clinical consideration for ataxia-telangiectasia in infants with low TREC and combined immunodeficiency, J Allergy Clin Immunol, 137, AB216, 10.1016/j.jaci.2015.12.1295

Hale, 2010, Identification of an infant with severe combined immunodeficiency by newborn screening, J Allergy Clin Immunol, 126, 1073, 10.1016/j.jaci.2010.08.043

Henderson, 2013, Expanding the spectrum of recombination activating gene-1 deficiency to include early onset autoimmunity, Arthritis Rheum, 65, S935

Huhtinen, 2011, A simple method for multiplexed homogeneous detection of TREC and beta-actin DNA using dried blood spots, J Inherit Metab Dis, 34, S41

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

Kamili, 2014, Chronic non-iatrogenic lymphatic loss syndromes identified though abnormal TREC analysis from the Texas Newborn Screening Program (NBS), J Allergy Clin Immunol, 133, AB96, 10.1016/j.jaci.2013.12.358

Khan, 2013, An omen of Omenn syndrome, Ann Allergy Asthma Immunol, 111, A84

Kloepfer, 2011, Challenges in newborn screening for severe combined immunodeficiency (SCID), J Clin Immunol, 31, S49

Knutsen, 2011, Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers, J Allergy Clin Immunol, 128, 1375, 10.1016/j.jaci.2011.08.019

Kubiak, 2015, The success of newborn screening for severe combined immunodeficiency, our hospital's experience, J Allergy Clin Immunol, 135, AB11, 10.1016/j.jaci.2014.12.971

Lee, 2016, Newborn screening for SCID is associated with a shorter interval from diagnosis to transplant, J Allergy Clin Immunol, 137, AB218, 10.1016/j.jaci.2015.12.844

Lev, 2012, Neonatal screening for severe combined immunodeficiency in Israel—‘TREC in real-time’, J Clin Immunol, 32, S315

Lippi, 2012, Dramatic effect of live vaccines (OPV and BCG) administred in the first year of life in a patient with severe immunodeficiency, J Clin Immunol, 32, S224

Mustillo, 2016, Resolution of T cell lymphopenia in a term infant with absent TRECs on newborn screen, J Allergy Clin Immunol, 137, AB216, 10.1016/j.jaci.2015.12.1293

Palacios, 2016, The University of Virginia experience at implementing newborn screening for severe combined immunodeficiency (SCID), J Allergy Clin Immunol, 137, AB216, 10.1016/j.jaci.2015.12.1294

Patel, 2014, DiGeorge syndrome found by SCID newborn screening in California, J Allergy Clin Immunol, 133, AB163, 10.1016/j.jaci.2013.12.589

Patel, 2015, Linking newborn severe combined immunodeficiency (SCID) screening with targeted exome sequencing: a case report, Ann Allergy Asthma Immunol, 115, A26

Petroni, 2016, Abnormal newborn SCID screen and lymphopenia in an infant exposed to in utero FOLFIRINOX chemotherapy, J Allergy Clin Immunol, 2, AB23, 10.1016/j.jaci.2015.12.074

Poowuttikul, 2011, Are severe combined immune deficiency (SCID) cases missed at a children's hospital?, J Allergy Clin Immunol, 127, AB145, 10.1016/j.jaci.2010.12.576

Reichenbach, 2014, Newborn screening for severe combined immunodeficiency (SCID)—retrospective analysis of positive cases and proposed pilot screening project, Swiss Med Wkly, 144, 39S

Rosenberg, 2013, A case of a false-positive screen for severe combined immunodeficiency in Pennsylvania, a state without statewide screening, J Allergy Clin Immunol Pract, 1, 407, 10.1016/j.jaip.2013.03.009

Rubin, 2013, Early detection and definitive treatment of severe combined immune deficiency in Connecticut, Ann Allergy Asthma Immunol, 111, A13

Scherzer, 2015, Newborn screening for severe combined immunodeficiency (SCID) in Ohio: using algorithms to standardize follow-up limits the number of false positive results, J Allergy Clin Immunol, 135, AB16, 10.1016/j.jaci.2014.12.986

Schuetz, 2012, Beyond new born screening: TRECs and KRECs are useful markers for diagnosis of hypomorphic (S)CID variants, J Clin Immunol, 32, S328

Seroogy, 2013, Diagnostic and treatment dilemmas from statewide newborn screening for severe combined immunodeficiency, Biol Blood Marrow Transplant, 19, S256, 10.1016/j.bbmt.2012.11.341

Shah, 2012, Severe T cell lymphopenia identified via TREC assay in a patient with 11q deletion syndrome (Jacobsen syndrome), Ann Allergy Asthma Immunol, 109, A112

Shankar, 2015, Newborn screening for severe combined immunodeficiency (SCID) leads to early identification of ataxia-telangiectasia (AT) complicated by neutropenia: a case report, J Allergy Clin Immunol, 135, AB13, 10.1016/j.jaci.2014.12.975

Smith, 2015, Transient lymphopenia in the setting of maternal immunosuppression therapy detected by newborn TREC screening: case report, Ann Allergy Asthma Immunol, 115, A100

Sporter, 2014, Transient lymphopenia of infancy: a previously unrecognized entity, J Allergy Clin Immunol, 133, AB231, 10.1016/j.jaci.2013.12.822

Tam, 2012, Complete DiGeorge syndrome detected by newborn screening for T-cell receptor excision circles (TRECs), J Clin Immunol, 32, 386

Taylor-Black, 2012, Cases of T cell lymphopenia which do not meet the classic definition of severe combined immunodeficiency (SCID) identified via SCID newborn screening in New York State, J Clin Immunol, 32, 388

Thomas, 2011, T-B-NK+ severe combined immunodeficiency (SCID) identified by statewide newborn screening, J Allergy Clin Immunol, 127, AB135, 10.1016/j.jaci.2010.12.538

Tierce, 2013, TREC <30 in infants without SCID as a marker for high mortality, J Allergy Clin Immunol, 131, AB73, 10.1016/j.jaci.2012.12.925

Tierce, 2012, Secondary immunodeficiency identified by TRECs NBS after initial normal screen, J Clin Immunol, 32, 387

Tierce, 2012, Newborn screening for SCID—the first three months in Michigan, J Clin Immunol, 32, 393

Verstegen, 2014, Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases, J Allergy Clin Immunol, 133, 1208, 10.1016/j.jaci.2013.10.010

Wasserman, 2014, Early detection of juvenile myelomonocytic leukemia (JMML) due to absent TRECs on newborn screening (NBS) for severe combined immunodeficiency (SCID), J Clin Immunol, 34, 364

Yates, 2016, Newborn screening for severe combined immune deficiency with T cell receptor excision circle assay in Mississippi 2012-2014, J Allergy Clin Immunol, 137, AB277, 10.1016/j.jaci.2015.12.1155

Yin-Hsiu, 2011, Newborn screening for severe combined immunodeficiency in Taiwan, J Inherit Metab Dis, 34, S21

Youssif, 2014, Our experience in screening for SCID in Egyptian children using TRECs, J Clin Immunol, 34, 719