Combined immunodeficiency with abnormal expression of MHC class II genes.
The MHC class II CID represents an example of immunodeficiency in which the defect in expression of membrane glycoproteins leads to abnormal cell to cell interactions and thus to abnormal immune responses. It represents an interesting model which confirms the importance of MHC molecules in all immune responses to foreign antigens. It also underlines the complexity of regulatory mechanism which control the expression of MHC class II genes. To elucidate these mechanisms, it is essential to identify and characterize the genes involved in control of MHC class II expression.
Griscelli
C
C
Inserm U 132, Département de Pédiatrie, Hôpital des Enfants Malades, Paris, France.
Lisowska-Grospierre
B
B
Le Deist
F
F
Durandy
A
A
Marcadet
A
A
Fischer
A
A
de Preval
C
C
Mach
B
B
D000361:Agammaglobulinemia / Q000209:etiology; D016026:Bone Marrow Transplantation; D005260:Female; D005786:Gene Expression Regulation / Q000187:drug effects; D005808:Genes, Recessive; D005809:Genes, Regulator; D006680:HLA Antigens / Q000096:biosynthesis; D006684:HLA-DR Antigens / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000601:surgery; D007239:Infections / Q000209:etiology; D007372:Interferons / Q000494:pharmacology; D007963:Leukocytes, Mononuclear / Q000187:drug effects / Q000276:immunology; D008297:Male
D006680:HLA Antigens; D006684:HLA-DR Antigens; D007372:Interferons