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Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.
Signorini, S; Imberti, L; Pirovano, S; Villa, A; Facchetti, F; Ungari, M; Bozzi, F; Albertini, A; Ugazio, A G; Vezzoni, P; Notarangelo, L D.
Afiliação
  • Signorini S; Terzo Servizio Analisi, Spedali Civili, the Institute of Chemistry, the Department of Pathology, University of Brescia, Brescia, Italy.
Blood ; 94(10): 3468-78, 1999 Nov 15.
Article em En | MEDLINE | ID: mdl-10552957
Mutations in the human RAG genes that impair, but do not abolish, recombination activity lead to Omenn syndrome, a severe primary immune deficiency that is associated with clinical and pathological features of graft-versus-host disease and oligoclonal expansion of activated, autologous T cells. We have analyzed the mechanisms accounting for peripheral oligoclonality of the T-cell repertoire. Predominance of few T-cell receptor clonotypes (both within TCRAB- and within TCRGD-expressing lymphocytes) is already detectable in the thymus and is further selected for in the periphery, with a different distribution of clonotypes in different tissues. These data indicate that oligoclonality of the T-cell repertoire in Omenn syndrome is due both to intrathymic restriction and to peripheral expansion. Moreover, the RAG genes defect that causes Omenn syndrome directly affects early stages of V(D)J recombination, but does not alter the process of double-strand-break DNA repair, including N and P nucleotide insertion.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Antígenos de Linfócitos T / Linfócitos T / Proteínas de Homeodomínio / Proteínas de Ligação a DNA / Síndromes de Imunodeficiência Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 1999 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Antígenos de Linfócitos T / Linfócitos T / Proteínas de Homeodomínio / Proteínas de Ligação a DNA / Síndromes de Imunodeficiência Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 1999 Tipo de documento: Article