RAG1 reversion mosaicism in a patient with Omenn syndrome

Journal of Clinical Immunology

Volumn 34, Issue 5, 2014, Pages 551-554

  Crestani, Elena ^a   Choo, Sharon ^b   Frugoni, Francesco ^a   Lee, Yu Nee ^a   Richards, Stephanie ^b   Smart, Joanne ^b   Notarangelo, Luigi D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Omenn syndrome; RAG1; severe combined immune deficiency; somatic reversion; T cell repertoire

Indexed keywords

BUSULFAN; CORTICOSTEROID; COTRIMOXAZOLE; CYCLOSPORIN; FLUDARABINE; IMMUNOGLOBULIN; RAG1 PROTEIN; THYMOCYTE ANTIBODY; HOMEODOMAIN PROTEIN; RAG-1 PROTEIN; TRANSPOSASE;

ALOPECIA; ARTICLE; CASE REPORT; DNA DETERMINATION; DNA RECOMBINATION; ERYTHRODERMA; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; GRAFT VERSUS HOST REACTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MOSAICISM; OMENN SYNDROME; PERIPHERAL BLOOD STEM CELL TRANSPLANTATION; PNEUMOCYSTIS PNEUMONIA; PRE T LYMPHOCYTE; PRIORITY JOURNAL; REDUCED INTENSITY CONDITIONING; REVERTANT; SKIN ABSCESS; T LYMPHOCYTE; VDJ RECOMBINATION; WEIGHT GAIN; B LYMPHOCYTE; BLOOD; GENETICS; GENOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; IMMUNOLOGY; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEVERE COMBINED IMMUNODEFICIENCY;

B-LYMPHOCYTES; DNA MUTATIONAL ANALYSIS; GENOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MOSAICISM; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; TRANSPOSASES;

EID: 84902368832     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0051-2     Document Type: Article

References (9)

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