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Blood, Vol. 93 No. 1 (January 1), 1999:
pp. 242-250
T-Cell Receptor Analysis in Omenn's Syndrome: Evidence for
Defects in Gene Rearrangement and Assembly
Edward G. Brooks,
Alexandra H. Filipovich,
John W. Padgett,
Robert Mamlock, and
Randall M. Goldblum
From the University of Texas Medical Branch, Department of
Pediatrics, Child Health Research Center, Galveston, TX; Pediatric
Immunology, University of Minnesota, Minneapolis, MN; and Texas Tech
Health Sciences Center School of Medicine, Department of Pediatrics,
Lubbock, TX.
Patients with Omenn's syndrome have a form of severe immune
deficiency that is associated with pathological features of
graft-versus-host disease, except for the lack of foreign engraftment.
It has been hypothesized that the disease's unique clinical features
are mediated by an expanded population of autologous self-reactive T
cells of limited clonality. In the current study, an investigation of the T-cell receptor (TCR) repertoire was undertaken to identify defects
in T-cell rearrangement and development. The TCR repertoire in this
group of patients was exquisitely restricted in the number of different
TCR clonotypes, and some of these clonotypes seemed to have similar
recognition motifs in the antigen-binding region, indicating
antigen-driven proliferation of T lymphocytes. The TCRs from some
patients lacked N- or P-nucleotide insertions and used proximal
variable and joining gene segments, suggesting abnormal intrathymic
T-cell development. Finally, abnormal assembly of gene segments and
truncated rearrangements within nonproductive alleles suggested
abnormalities in TCR rearrangement mechanisms. Overall, the findings
suggest that inefficient and/or abnormal generation of TCRs may
be a consistent feature of this disease.
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