Mutation in the class II trans-activator leading to a mild immunodeficiency

Journal of Immunology

Volumn 167, Issue 3, 2001, Pages 1787-1794

  Wiszniewski, W ^a   Fondaneche, M C ^a   Le Deist, F ^a   Kanariou, M ^a   Selz, F ^a   Brousse, N ^a   Steimle, V ^a   Barbieri, G ^a   Alcaide Loridan, C ^a   Charron, D ^a   Fischer, A ^a   Lisowska Grospierre, B ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TRANSACTIVATOR PROTEIN;

ADULT; ANTIGEN EXPRESSION; ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; GENETIC TRANSFECTION; HLA TYPING; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOHISTOCHEMISTRY; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0035424169     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: 10.4049/jimmunol.167.3.1787     Document Type: Article

References (35)

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7. Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX
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14. Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients
15. CIITA leucine-rich repeats control nuclear localisation, in vivo recruitment to the MHC class II enhanceosome, and MHC class II gene transactivation
16. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
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19. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κ B
20. Human CARD4 protein is a novel CED-4/Apaf-1 cell death family member that activates NF-κB
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27. Regulation of MHC class II expression by interferon-γ mediated by the transactivator CIITA
28. Evidence for the in vivo role of class II transactivator in basal and IFN-γ induced class II expression in mouse tissue
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30. Mice lacking the MHC class II transactivator (CIITA) show tissue-specific impairment of MHC class II expression
31. Cell-mediated immune functions in a patient with MHC class II deficiency
32. Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency group A
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34. A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome
35. Two distinct domains within CIITA mediate self-association: Involvement of the GTP-binding and leucine reach repeat domains