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 PMID:20190759  

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  2. PMID:20190759

An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence.

Michael Berger | Philippe Krebs | Karine Crozat | Xiaohong Li | Ben A Croker | Owen M Siggs | Daniel Popkin | Xin Du | Brian R Lawson | Argyrios N Theofilopoulos | Yu Xia | Kevin Khovananth | Eva Marie Moresco | Takashi Satoh | Osamu Takeuchi | Shizuo Akira | Bruce Beutler
Nature immunology | 2010

Here we describe a previously unknown form of inherited immunodeficiency revealed by an N-ethyl-N-nitrosourea-induced mutation called elektra. Mice homozygous for this mutation showed enhanced susceptibility to bacterial and viral infection and diminished numbers of T cells and inflammatory monocytes that failed to proliferate after infection and died via the intrinsic apoptotic pathway in response to diverse proliferative stimuli. They also had a greater proportion of T cells poised to replicate DNA, and their T cells expressed a subset of activation markers, suggestive of a semi-activated state. We positionally ascribe the elektra phenotype to a mutation in the gene encoding Schlafen-2 (Slfn2). Our findings identify a physiological role for Slfn2 in the defense against pathogens through the regulation of quiescence in T cells and monocytes.

Pubmed ID: 20190759

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Associated grants

  • Agency: NIAID NIH HHS, United States
    Id: P01 AI070167-01
  • Agency: NIAID NIH HHS, United States
    Id: P01 AI070167
  • Agency: NIGMS NIH HHS, United States
    Id: R37 GM067759
  • Agency: NIAID NIH HHS, United States
    Id: R01 AI076396
  • Agency: NIAMS NIH HHS, United States
    Id: R01 AR031203

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SJL and C57BL/6 (tool)

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C57BL/6-Myd88poc (tool)

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laboratory mouse with name C3H/HeN from MGI.

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C57BL/6J (tool)

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NIH 3T3 (tool)

RRID:CVCL_0594

Cell line NIH 3T3 is a Spontaneously immortalized cell line with a species of origin Mus musculus

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C57BL/6J-Slfn2m1Btlr/Mmucd (organism)

RRID:MMRRC_031705-UCD

Mus musculus with name C57BL/6J-Slfn2m1Btlr/Mmucd from MMRRC.

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B6.SJL-Ptprca Pepc/BoyJ (organism)

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B6.Cg-Tg(BCL2)25Wehi/J (organism)

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B6.MRL-Faslpr/J (organism)

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