Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
about
Newborn screening for SCID identifies patients with ataxia telangiectasiaT-cell abnormalities in common variable immunodeficiency: the hidden defectUse of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficienciesAtaxia telangiectasia: a reviewCalculated globulin (CG) as a screening test for antibody deficiency.T-cell Receptor and K-deleting Recombination Excision Circles in Newborn Screening of T- and B-cell Defects: Review of the Literature and Future Challenges.Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.Long-lasting production of new T and B cells and T-cell repertoire diversity in patients with primary immunodeficiency who had undergone stem cell transplantation: a single-centre experience.Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.Simultaneous quantification of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs) by real-time PCR.Clinical applications of gene therapy for primary immunodeficiencies.TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic ReviewNewborn screening for severe combined immunodeficiency in 11 screening programs in the United States.A Novel Targeted Screening Tool for Hypogammaglobulinemia: Measurement of Serum Immunoglobulin (IgG, IgM, IgA) Levels from Dried Blood Spots (Ig-DBS Assay).Screening for severe combined immunodeficiency in neonates.Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases.Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening StudyNewborn screening for primary immunodeficiencies: beyond SCID and XLA.Haematopoietic stem cell transplantation for SCID patients: where do we stand?Laboratory diagnosis of primary immunodeficiencies.The case for mandatory newborn screening for severe combined immunodeficiency (SCID).Newborn screening for SCID: where are we now?Immunoglobulins: current understanding and future directions.Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.Surge of immune cell formation at birth differs by mode of delivery and infant characteristics-A population-based cohort study.Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.Detection of newly produced T and B lymphocytes by digital PCR in blood stored dry on nylon flocked swabs.The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.Newborn screening for PIDs using both TREC and KREC identifies late occurrence of B cells.Positive Kappa-Deleting Recombination Excision Circles (KREC) Newborn Screening in a Neonate With Intrauterine Exposure to Rituximab.Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.DOCK2 Deficiency in a Patient with Hyper IgM Phenotype.Applying T-cell receptor excision circles and immunoglobulin κ-deleting recombination excision circles to patients with primary immunodeficiency diseases.
P2860
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P2860
Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Neonatal screening for severe ...... oughput triplex real-time PCR.
@en
Neonatal screening for severe ...... oughput triplex real-time PCR.
@nl
type
label
Neonatal screening for severe ...... oughput triplex real-time PCR.
@en
Neonatal screening for severe ...... oughput triplex real-time PCR.
@nl
prefLabel
Neonatal screening for severe ...... oughput triplex real-time PCR.
@en
Neonatal screening for severe ...... oughput triplex real-time PCR.
@nl
P2093
P50
P1433
P1476
Neonatal screening for severe ...... roughput triplex real-time PCR
@en
P2093
Jacek Winiarski
Lennart Hammarström
Magdalena Janzi
Michael Borte
Stephan Borte
Ulrika von Döbeln
P304
P356
10.1182/BLOOD-2011-08-371021
P407
P577
2011-11-30T00:00:00Z