IRF4 haploinsufficiency in a family with Whipple’s disease

• Published in: eLife Vol. 7
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England eLife Sciences Publications Ltd 14.03.2018; eLife Sciences Publication; eLife Sciences Publications, Ltd
• Subjects: Age; Aged; Aged, 80 and over; Arthritis; Biopsy; Chronic illnesses; Cytokines; Feces; Female; Gene expression; Genetic Predisposition to Disease - genetics; Genetics; Haploinsufficiency; Haploinsufficiency - genetics; Heredity; Hospitals; Human health and pathology; Humans; Immunology; Immunology and Inflammation; Infections; Infectious diseases; Interferon regulatory factor 4; Interferon Regulatory Factors - genetics; IRF4; Laboratories; Leukocytes; Leukocytes - microbiology; Life Sciences; Lymphocytes; Male; Microbiology and Infectious Disease; Middle Aged; Mutation; Pedigree; Penetrance; primary immunodeficiency; Tropheryma - genetics; Tropheryma - pathogenicity; Tropheryma whipplei; Viral infections; Whipple Disease - genetics; Whipple Disease - microbiology; Whipple Disease - pathology; Whipple's disease; New York; Australia; France; United States > US; Paris France; haploinsufficiency; IRF4; infectious disease; inflammation; microbiology; primary immunodeficiency; human; immunology; Whipple's disease; haploinsufficiency 44

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 chron...