Open access
Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar
E. Galli
Christoph T. Berger
T. Daikeler
A. Peyer Kauffmann
Marc Emmenegger
Armin Droll
Andrea Egger
M. Sinnreich
Mike Recher
Medicine
Abstract
Galli, Recher et al. describe two patients with hypogammaglobulinemia associated with myotonic dystrophy type 1 (DM1), a rare and underdiagnosed monogenic neuromuscular disorder. The authors present clinical and immunophenotypic clues to aid clinical immunologists in making a correct diagnosis, while discussing the knowns and unknowns in the molecular pathogenesis of DM1-related antibody deficiency.