Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome

Journal of Clinical Immunology

Volumn 34, Issue 4, 2014, Pages 514-519

  Lingman Framme, Jenny ^a   Borte, Stephan ^b,c,d   Von Döbeln, Ulrika ^b   Hammarström, Lennart ^b   Óskarsdóttir, Sólveig ^e  

^a Hallands Hospital Halmstad   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF LEIPZIG   (Germany)

^d Klinikum St Georg   (Germany)

^e QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

Author keywords

22q11 deletion syndrome; DiGeorge syndrome; KREC; newborn screening; severe combined immunodeficiency; TREC

Indexed keywords

CD8 ANTIGEN;

ARTICLE; ASSAY; B LYMPHOPENIA; CD8+ T LYMPHOCYTE; CHROMOSOME DELETION 22Q11; CONTROLLED STUDY; COPY NUMBER VARIATION; DIGEORGE SYNDROME; DISEASE SEVERITY; FEMALE; HUMAN; INFANT; INFECTION SENSITIVITY; KAPPA DELETING RECOMBINATION EXCISION CIRCLES ASSAY; LYMPHOCYTE COUNT; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; RECURRENT VIRUS INFECTION; RETROSPECTIVE STUDY; SEVERE COMBINED IMMUNODEFICIENCY; T CELL RECEPTOR EXCISION CIRCLES ASSAY; T LYMPHOPENIA; 22Q11 DELETION SYNDROME; B LYMPHOCYTE; CHILD; GENE REARRANGEMENT; GENETICS; GENOTYPE; IMMUNOLOGICAL PROCEDURES; IMMUNOLOGY; LYMPHOPENIA; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; T LYMPHOCYTE;

22Q11 DELETION SYNDROME; B-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE REARRANGEMENT, T-LYMPHOCYTE; GENOTYPE; HUMANS; IMMUNOLOGIC TESTS; INFANT; INFANT, NEWBORN; LYMPHOPENIA; MALE; NEONATAL SCREENING; PHENOTYPE; RETROSPECTIVE STUDIES; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

EID: 84901471508     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0002-y     Document Type: Article

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