Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Journal of Clinical Immunology

Volumn 37, Issue 1, 2017, Pages 51-60

  Barbaro, Michela ^a,b   Ohlsson, Annika ^a,b   Borte, Stephan ^a,c   Jonsson, Susanne ^a   Zetterström, Rolf H ^a,b   King, Jovanka ^a,d,e   Winiarski, Jacek ^a,b   von Döbeln, Ulrika ^a,b   Hammarström, Lennart ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c Klinikum St Georg   (Germany)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

KREC; Newborn screening; primary immunodeficiency diseases; severe combined immunodeficiency; TREC

Indexed keywords

AZATHIOPRINE; BETA ACTIN; CIRCULAR DNA; IMMUNOSUPPRESSIVE AGENT; KAPPA DELETING RECOMBINATION EXCISION CIRCLE; MERCAPTOPURINE; T CELL RECEPTOR EXCISION CIRCLE; TACROLIMUS; UNCLASSIFIED DRUG; LYMPHOCYTE ANTIGEN RECEPTOR;

ARTICLE; B LYMPHOCYTE; CHILD; CONTROLLED STUDY; DIGEORGE SYNDROME; DISEASE SEVERITY; DNA EXTRACTION; DRIED BLOOD SPOT TESTING; FEMALE; FOLLOW UP; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INFANT; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; PILOT STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SWEDEN; T LYMPHOCYTE; TRISOMY 21; GENE DELETION; GENETIC RECOMBINATION; GENETIC SCREENING; GENETICS; GESTATIONAL AGE; MULTIPLEX POLYMERASE CHAIN REACTION; NEWBORN; PHENOTYPE; PROCEDURES; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; SEVERE COMBINED IMMUNODEFICIENCY;

FEMALE; GENETIC TESTING; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NEONATAL SCREENING; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTORS, ANTIGEN, T-CELL; RECOMBINATION, GENETIC; RISK FACTORS; SEQUENCE DELETION; SEVERE COMBINED IMMUNODEFICIENCY; SWEDEN;

EID: 84996526270     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0347-5     Document Type: Article

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