Functional T cell immunodeficiency characterized by defective TCR/CD3 induced tyrosylphosphorylation.
Defective T cell activation has been recognized in a number of patients with primary immunodeficiencies (ID). A distal defect resulting in abnormal production of IL2, IL3, IL4 and IFN gamma was found to be associated with reduced binding of the NF-AT transcription factor to the promoters of the genes coding for these lymphokines. Defect in early steps of T cell activation have been described in primary IDs, consisting in defective calcium flux and phosphoinositides turnover following TCR/CD3 ligation. We herein report a primary ID found in a 13 year old girl. It consists in a partially defective T cell proliferation which could be related to a defective Tyrosine phosphorylation.
Hivroz
C
C
INSERM U 132, Paris, France.
Le Deist
F
F
Buc
H A
HA
Griscelli
C
C
Fischer
A
A
D000293:Adolescent; D017252:CD3 Complex / Q000378:metabolism; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology* / Q000378:metabolism; D066298:In Vitro Techniques; D008213:Lymphocyte Activation; D010766:Phosphorylation; D011505:Protein-Tyrosine Kinases; D011948:Receptors, Antigen, T-Cell / Q000378:metabolism; D013601:T-Lymphocytes / Q000276:immunology* / Q000378:metabolism; D014443:Tyrosine / Q000378:metabolism
D017252:CD3 Complex; D011948:Receptors, Antigen, T-Cell; D014443:Tyrosine; D011505:Protein-Tyrosine Kinases