Blood gammadelta T cells and gammadelta TCR V gene specificities in a single missense mutation (L-->Q271) in the common gamma chain gene.
The numbers of blood CD4+, CD8+, and CD4-CD8- T cells bearing alphabeta T-cell receptor (TCR) or gammadelta TCR molecules in males with a single missense mutation (L-->Q271) in the common gamma chain gene (gamma(c)) were investigated by flow cytometry. Virtually all XCIDL-->Q271 blood T cells that were CD4+ or CD8+ displayed alphabeta TCR but no gammadelta TCR. In contrast, CD4-CD8- T cells from affected males usually displayed gammadelta TCR, but no alphabeta TCR. The gammadelta TCR specificities were also studied. Except for the oldest subject, there was a direct relationship between blood CD3+ T cells that displayed gammadelta TCR and Vgamma9 and Vdelta2a specificities. Relative frequencies of CD3+ blood T cells that were Vgamma9+ or Vdelta2a+ were inversely related to age. In the oldest patient, the only detected gammadelta TCR specificity was Vdelta1. Thus, in contrast to mice with no gamma(c), XCIDL-Q271 blood T cells that bear gammadelta TCR with Vgamma9/Vdelta2a specificities develop but then decline in late childhood and thereafter. TCR with the Vdelta1 specificity then appear in older survivors with XCIDL-->Q271.
Schmalstieg
F C
FC
The Department of Pediatrics, The University of Texas Medical Branch, Galveston 77555-0369, USA. fschmals@utmb.edu
Palkowetz
K H
KH
Rudloff
H E
HE
Goldman
A S
AS
D015496:CD4-Positive T-Lymphocytes / Q000276:immunology; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology*; D053631:Interleukin Receptor Common gamma Subunit; D018655:Lymphocyte Count; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000378:metabolism; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics* / Q000378:metabolism; D020395:Receptors, Interleukin-7 / Q000235:genetics*; D016176:T-Lymphocyte Subsets / Q000276:immunology*; D014960:X Chromosome / Q000235:genetics
C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D016693:Receptors, Antigen, T-Cell, alpha-beta; D016692:Receptors, Antigen, T-Cell, gamma-delta; D020395:Receptors, Interleukin-7