Somatic Mosaicism Caused by Monoallelic Reversion of a Mutation in T Cells of a Patient with ADA-SCID and the Effects of Enzyme Replacement Therapy on the Revertant Phenotype

Scandinavian Journal of Immunology

Volumn 74, Issue 5, 2011, Pages 471-481

  Moncada Velez M ^a   Velez Ortega A ^a   Orrego, J ^a   Santisteban, I ^b   Jagadeesh, J ^c   Olivares, M ^a   Olaya, N ^a   Hershfield, M ^b   Candotti, F ^c   Franco, J L ^a  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ANTIBIOTIC AGENT; IMMUNOGLOBULIN; T LYMPHOCYTE RECEPTOR ALPHA CHAIN; T LYMPHOCYTE RECEPTOR BETA CHAIN;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL EXPANSION; CHILD; CONTROLLED STUDY; DNA SEQUENCE; DRUG DOSE INCREASE; ENZYME ACTIVITY; ENZYME REPLACEMENT; ERYTHROCYTE; FOLLOW UP; GENE THERAPY; GERM CELL TUMOR; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE RESPONSE; INFANT; LUNG BIOPSY; LYMPHOCYTE COUNT; LYMPHOCYTE FUNCTION; LYMPHOCYTE SUBPOPULATION; MALE; METABOLISM; MISSENSE MUTATION; MOSAICISM; NATURAL KILLER CELL; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERTANT; SEPSIS; SEVERE COMBINED IMMUNODEFICIENCY; SOMATIC MOSAICISM; T LYMPHOCYTE; TREATMENT OUTCOME;

ADENOSINE DEAMINASE; ANIMALS; CATTLE; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CELL COUNT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENZYME REPLACEMENT THERAPY; FATAL OUTCOME; HUMANS; IMMUNOPHENOTYPING; INFANT; KILLER CELLS, NATURAL; LUNG NEOPLASMS; MALE; MOSAICISM; MUTATION; NEOPLASMS, UNKNOWN PRIMARY; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; SHOCK, SEPTIC;

EID: 80053519843     PISSN: 03009475     EISSN: 13653083     Source Type: Journal    
DOI: 10.1111/j.1365-3083.2011.02593.x     Document Type: Article

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