論文

査読有り
2012年8月

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.

J. Clin. Immunol.
  • Kawai T
  • Saito M
  • Nishikomori R
  • Yasumi T
  • Izawa K
  • Murakami T
  • Okamoto S
  • Mori Y
  • Nakagawa N
  • Imai K
  • Nonoyama S
  • Wada T
  • Yachie A
  • Ohmori K
  • Nakahata T
  • Heike T
  • 全て表示

32
4
開始ページ
690
終了ページ
697
記述言語
英語
掲載種別
DOI
10.1007/s10875-012-9684-1

Reversion mosaicism is increasingly being reported in primary immunodeficiency diseases, but there have been few cases with clinically improved immune function. Here, a case is reported of X-linked severe combined immunodeficiency (SCID-X1) with multiple somatic reversions in T cells, which restored sufficient cell-mediated immunity to overcome viral infection. Lineage-specific analysis revealed multiple reversions in T cell receptor (TCR) αβ+ and TCRγδ+ T cells. Diversity of the TCRVβ repertoire was comparable to normal and, furthermore, mitogen-induced proliferation of the patient's T cells was minimally impaired compared to healthy controls. In vivo and in vitro varicella antigen-specific T cell responses were comparable to those of healthy controls, although a reduced level of T cell receptor excision circles suggested that recent thymic output was low. During long-term evaluation of the patient's immunologic status, both the number of CD4+ and CD8+ T cells and T cell proliferation responses were stable and the patient remained healthy. This case demonstrates that multiple but restricted somatic reversions in T cell progenitors can improve the clinical phenotype of SCID-X1

リンク情報
DOI
https://doi.org/10.1007/s10875-012-9684-1
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/22460439
ID情報
  • DOI : 10.1007/s10875-012-9684-1
  • ISSN : 1573-2592
  • PubMed ID : 22460439

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