Blood gammadelta T cells and gammadelta TCR V gene specificities in a single missense mutation (L-->Q271) in the common gamma chain gene

• Published in: Scandinavian journal of immunology Vol. 54; no. 6; p. 592
• Main Authors: Schmalstieg, F C, Palkowetz, K H, Rudloff, H E, Goldman, A S
• Format: Journal Article
• Language: English
• Published: England 01.12.2001
• Subjects: CD4-Positive T-Lymphocytes - immunology; CD8-Positive T-Lymphocytes - immunology; Female; Humans; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Interleukin Receptor Common gamma Subunit; Lymphocyte Count; Male; Mutation, Missense; Pedigree; Receptors, Antigen, T-Cell, alpha-beta - metabolism; Receptors, Antigen, T-Cell, gamma-delta - genetics; Receptors, Antigen, T-Cell, gamma-delta - metabolism; Receptors, Interleukin-7 - genetics; T-Lymphocyte Subsets - immunology; X Chromosome - genetics
• ISSN: 0300-9475
• DOI: 10.1046/j.1365-3083.2001.01007.x

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.