Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, IMG1, IMG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review

Genetics in Medicine

Volumn 6, Issue 1, 2004, Pages 16-26

  Kalman, Lisa ^a,f   Lindegren, Mary Lou ^b   Kobrynski, Lisa ^c   Vogt, Robert ^a   Hannon, Harry ^a   Howard, Joelyn Tonkin ^d   Buckley, Rebecca ^e  

^a CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^b NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^c EMORY UNIVERSITY   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e DUKE UNIVERSITY   (United States)

^f NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

ADA; IL2RG; JAK3; RAG1; Severe combined immunodeficiency disorder

Indexed keywords

CD45 ANTIGEN; INTERLEUKIN 7 RECEPTOR; RAG1 PROTEIN; RAG2 PROTEIN;

ADA GENE; ARTEMIS GENE; B LYMPHOCYTE; BACTERIAL INFECTION; CELLULAR IMMUNITY; CHILD DEATH; COMBINED IMMUNODEFICIENCY; DISEASE SEVERITY; GENE; GENE FREQUENCY; GENE MUTATION; GENE THERAPY; GENOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMORAL IMMUNITY; IL2RG GENE; IMMUNOPATHOLOGY; INFANT; JAK3 GENE; LYMPHOCYTOPENIA; NATURAL KILLER CELL; NEWBORN SCREENING; PREVALENCE; REVIEW; T LYMPHOCYTE; VIRUS INFECTION;

GENETICS, POPULATION; GENOTYPE; HUMANS; INFANT, NEWBORN; LYMPHOPENIA; MUTATION; NEONATAL SCREENING; PREVALENCE; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; VARIATION (GENETICS);

BACTERIA (MICROORGANISMS);

EID: 0842327458     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000105752.80592.A3     Document Type: Review

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