Newborn screening for SCID identifies patients with ataxia telangiectasia

Journal of Clinical Immunology

Volumn 33, Issue 3, 2013, Pages 540-549

  Mallott, Jacob ^a   Kwan, Antonia ^a   Church, Joseph ^b   Gonzalez Espinosa, Diana ^a   Lorey, Fred ^c   Tang, Ling Fung ^d   Sunderam, Uma ^e   Rana, Sadhna ^e   Srinivasan, Rajgopal ^e   Brenner, Steven E ^f   Puck, Jennifer ^a,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e TATA CONSULTANCY SERVICES   (India)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Ataxia telangiectasia; Newborn screening; SCID; TREC; Whole exome sequencing

Indexed keywords

ATR PROTEIN; T LYMPHOCYTE RECEPTOR;

ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; CD4 LYMPHOCYTE COUNT; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE SEQUENCE; HEALTH PROGRAM; HUMAN; INFANT; LYMPHOCYTOPENIA; MALE; NEWBORN; NEWBORN SCREENING; PARENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE COMBINED IMMUNODEFICIENCY; TREC GENE; UNITED STATES;

AMINO ACID SEQUENCE; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; EXOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOPENIA; MALE; MUTATION; NEONATAL SCREENING; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; SEVERE COMBINED IMMUNODEFICIENCY; TUMOR SUPPRESSOR PROTEINS;

EID: 84879880328     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9846-1     Document Type: Article

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