History and current status of newborn screening for severe combined immunodeficiency

Seminars in Perinatology

Volumn 39, Issue 3, 2015, Pages 194-205

  Kwan, Antonia ^a   Puck, Jennifer M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

DiGeorge syndrome; Hematopoietic cell transplantation; Primary immunodeficiency; Severe combined immunodeficiency; T cell lymphopenia; T cell receptor excision circle (TREC)

Indexed keywords

ANTIINFECTIVE AGENT; ATM PROTEIN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE THERAPY AGENT; INTERLEUKIN 17 RECEPTOR; JANUS KINASE 3; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PHYTOHEMAGGLUTININ; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN KINASE ZAP 70; RAG1 PROTEIN; RAG2 PROTEIN; RIBONUCLEASE P; T CELL RECEPTOR EXCISION CIRCLE; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; ATAXIA TELANGIECTASIA; CELL PROLIFERATION; CELL SURVIVAL; CELLULAR IMMUNITY; CHROMOSOME 12P; CHROMOSOME DUPLICATION; CONGENITAL MALFORMATION; CYTOKINE PRODUCTION; DIGEORGE SYNDROME; DNA DETERMINATION; DOUBLE STRANDED DNA BREAK; DRIED BLOOD SPOT TESTING; ENZYME REPLACEMENT; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENOTYPE; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOGLOBINOPATHY; HUMAN; HUMORAL IMMUNITY; HYPOTHYROIDISM; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IMMUNOASSAY; INBORN ERROR OF METABOLISM; INCIDENCE; LYMPHOCYTE COUNT; LYMPHOCYTOPENIA; MITOSIS; MORBIDITY; MORTALITY; NEWBORN; NEWBORN SCREENING; OPPORTUNISTIC INFECTION; PHENYLKETONURIA; PNEUMOCYSTIS PNEUMONIA; POLYMERASE CHAIN REACTION; PREMATURE LABOR; PRIORITY JOURNAL; PROTEIN EXPRESSION; PUBLIC HEALTH; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY; VDJ RECOMBINATION; VERY LOW BIRTH WEIGHT; EARLY DIAGNOSIS; EPIDEMIOLOGY; HISTORY; IMMUNOLOGY; LYMPHOPENIA; PROCEDURES; T LYMPHOCYTE; TRENDS; UNITED STATES;

DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; INFANT, NEWBORN; LYMPHOPENIA; NEONATAL SCREENING; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; UNITED STATES;

EID: 84929707133     PISSN: 01460005     EISSN: 1558075X     Source Type: Journal    
DOI: 10.1053/j.semperi.2015.03.004     Document Type: Review

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