Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course

Immunogenetics

Volumn 55, Issue 8, 2003, Pages 530-539

  Prod'homme, Thomas ^a   Dekel, Benjamin ^b   Barbieri, Giovanna ^a,e   Lisowska Grospierre, Barbara ^c   Katz, Rina ^d   Charron, Dominique ^a   Alcaide Loridan, Catherine ^a   Pollack, Shimon ^d  

^a INSERM   (France)

^b SHEBA MEDICAL CENTER   (Israel)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e CNR   (Italy)

Author keywords

Antigen presentation processing; Gene regulation; Human; Immunodeficiency diseases; Molecular biology

Indexed keywords

HLA D ANTIGEN; HLA DR ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2;

ADULT; ANTIGEN EXPRESSION; ANTIGEN PRESENTATION; ARTICLE; B LYMPHOCYTE; CASE REPORT; COMBINED IMMUNODEFICIENCY; DISEASE COURSE; FEMALE; GENE; GENE CONTROL; GENE MUTATION; HUMAN; MONOCYTE; PRIORITY JOURNAL; RFXANK GENE; RNA SPLICING; T LYMPHOCYTE;

ADULT; ANIMALS; B-LYMPHOCYTES; COS CELLS; FEMALE; HISTOCOMPATIBILITY ANTIGENS CLASS II; HLA-D ANTIGENS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; RNA SPLICING; TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 0344082092     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00251-003-0609-2     Document Type: Article

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