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Article

Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.

Blood - 15 Nov 1999

Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, Bozzi F, Albertini A, Ugazio A G, Vezzoni P, Notarangelo L D

Abstract excerpt

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...

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Identifiers

PMID: 10552957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.PMID 10552957Read ↗

Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

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Omenn syndrome does not live by V(D)J recombination alone.Semantic proximity Read ↗

Characterization of T and B cell repertoire diversity in patients with RAG deficiencySemantic proximity Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cellsSemantic proximity Read ↗

The genetic and biochemical basis of Omenn syndrome.Semantic proximity Read ↗

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.Semantic proximity Read ↗

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.Semantic proximity Read ↗

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).Semantic proximity Read ↗

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.Semantic proximity Read ↗

Partial V(D)J recombination activity leads to Omenn syndrome.Semantic proximity Read ↗

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