Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction

Blood. 2022 Mar 3;139(9):1418-1422. doi: 10.1182/blood.2021013519.

Lena Muckenthaler^{1

2}, Oriana Marques^{1

2}, Silvia Colucci^{1

2}, Joachim Kunz^{1

2}, Piotr Fabrowski³, Thomas Bast⁴, Sandro Altamura^{1

2}, Britta Höchsmann⁵, Hubert Schrezenmeier⁵, Monika Langlotz⁶, Paulina Richter-Pechanska^{1

2}, Tobias Rausch^{2

7}, Nicole Hofmeister-Mielke⁸, Nikolas Gunkel³, Matthias W Hentze⁹, Andreas E Kulozik^{1

2}, Martina U Muckenthaler^{1

2

10

11}

¹ Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
² Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
³ Cancer Drug Development Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴ Pediatric Epilepsy Centre, Diaconia Kork, Kehl-Kork, Germany.
⁵ Department of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany.
⁶ Flow Cytometry & FACS Core Facility, Centre of Molecular Biology, University of Heidelberg, Heidelberg, Germany.
⁷ Genome Biology Unit, EMBL, Heidelberg, Germany.
⁸ Laboratory for Hematological Diagnostics, University Heidelberg, Heidelberg, Germany.
⁹ EMBL, Heidelberg, Germany.
¹⁰ Translational Lung Research Center (TLRC) Heidelberg, German Center for Lung Research, University of Heidelberg, Heidelberg, Germany; and.
¹¹ German Centre for Cardiovascular Research (DZHK), Partner Site, Heidelberg/Mannheim, Germany.

No abstract available

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