IRF4 haploinsufficiency in a family with Whipple's disease.

doi:10.7554/eLife.32340

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Article

IRF4 haploinsufficiency in a family with Whipple's disease.

eLife - 14 Mar 2018

Guérin Antoine, Kerner Gaspard, Marr Nico, Markle Janet G, Fenollar Florence, Wong Natalie, Boughorbel Sabri, Avery Danielle T, Ma Cindy S, Bougarn Salim, Bouaziz Matthieu, Béziat Vivien, Della Mina Erika, Oleaga-Quintas Carmen, Lazarov Tomi, Worley Lisa, Nguyen Tina, Patin Etienne, Deswarte Caroline, Martinez-Barricarte Rubén, Boucherit Soraya, Ayral Xavier, Edouard Sophie, Boisson-Dupuis Stéphanie, Rattina Vimel, Bigio Benedetta, Vogt Guillaume, Geissmann Frédéric, Quintana-Murci Lluis, Chaussabel Damien, Tangye Stuart G, Raoult Didier, Abel Laurent, Bustamante Jacinta, Casanova Jean-Laurent

Abstract excerpt

Most humans are exposed to Tropheryma whipplei (Tw). Whipple's disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), whereas asymptomatic chronic carriage is more common (<25%). We studied a multiplex kindred, containing four WD patients and five healthy Tw chronic carriers. We hypothesized that WD displays autosomal dominant (AD) inheritance, with age-dependent incomplete...

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PMID: 29537367
DOI: 10.7554/eLife.32340
PMCID: PMC5915175

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