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Comment
. 2018 Apr 18:7:e36649.
doi: 10.7554/eLife.36649.

Back from the brink of obscurity

Donald C Vinh  1   2   3   4
Affiliations
Comment

Back from the brink of obscurity

Donald C Vinh. Elife. .

Abstract

A mutation in a transcription factor makes people susceptible to Tropheryma whipplei, the bacterium that causes a rare condition called Whipple's disease.

Keywords: IRF4; Whipple's disease; haploinsufficiency; human; immunology; infectious disease; inflammation; microbiology; primary immunodeficiency.

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Conflict of interest statement

DV No competing interests declared

Figures

Figure 1.
Figure 1.. Biopsy of the small intestine showing features classic for Whipple’s disease.
The epithelial cells that line the gut are smooth because the microvilli normally found on them have been blunted (green arrowhead). The area beneath the epithelial cells, the lamina propria, is filled with numerous round cells with a 'foamy' appearance: these are the macrophages (black arrowheads). Extracellular fat has also accumulated in this area (white arrowhead). The tissue is stained with hematoxylin and eosin stain.
See this image and copyright information in PMC

Comment on

  • IRF4 haploinsufficiency in a family with Whipple's disease.
    Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Béziat V, Della Mina E, Oleaga-Quintas C, Lazarov T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL. Guérin A, et al. Elife. 2018 Mar 14;7:e32340. doi: 10.7554/eLife.32340. Elife. 2018. PMID: 29537367 Free PMC article.

References

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    1. Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Beziat V, Della Mina E, Oleaga-Quintas C, Lazarovt T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL. IRF4 haploinsufficiency in a family with Whipple's disease. eLife. 2018;7:e32340. doi: 10.7554/eLife.32340. - DOI - PMC - PubMed
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