Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar

Edoardo Galli; Christoph T. Berger; Anne-Kathrin Peyer Kauffmann; Marc Emmenegger; Armin Droll; Andrea Egger; Michael Sinnreich; Mike Recher

doi:10.70962/jhi.20250223

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Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar

Edoardo Galli, Christoph T. Berger, Anne-Kathrin Peyer Kauffmann, Marc Emmenegger, Armin Droll, Andrea Egger, Michael Sinnreich, Mike Recher

Journal of Human Immunity2026doi:10.70962/jhi.20250223

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Abstract

Myotonic dystrophy type 1 is a rare, underdiagnosed genetic neuromuscular disorder that is often accompanied by hypogammaglobulinemia, serving as a crucial diagnostic clue. We report the clinical and immunophenotypic features of two patients and discuss the underlying pathogenesis.

Authors

Edoardo Galli#1 Christoph T. Berger#2 Anne-Kathrin Peyer Kauffmann#4 Marc Emmenegger#5 Armin Droll#6 Andrea Egger#7 Michael Sinnreich#8 Mike Recher#9

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External reference records

Myotonic dystrophy type 1: Clinical diversity, molecular insights and therapeutic perspectives

10.1038/s41582-025-01139-x · 2025

Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: A hereditary error of immunoglobulin catabolism

10.1172/jci105346 · 1966

Hypogammaglobulinemia and infection risk in myotonic dystrophy type 1

10.1002/mus.28247 · 2024

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

10.70962/jhi.20250002 · 2025

Differential effects of FcRn antagonists on the subcellular trafficking of FcRn and albumin

10.1172/jci.insight.176166 · 2024

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