IRF4 haploinsufficiency in a family with Whipples disease
A. Guerin, G. Kerner, N. Marr, J. G. Markle, F. Fenollar, N. Wong, S. Boughorbel, D. T. Avery, C. Ma, S. Bougarn, M. Bouaziz, V. Beziat, E. Della Mina, T. Lazarovt, L. Worley, , J.-L. Casanova
This study identifies IRF4 haploinsufficiency as the genetic cause of Whipples disease in a family, showing age-dependent incomplete penetrance and chronic Tw carriage preceding disease onset.
bioRxiv · Oct 3, 2017Immunology