A mutation in the iron-responsive element of <i>ALAS2</i> is a modifier of disease severity in a patient suffering from <i>CLPX</i> associated erythropoietic protoporphyria

• Sarah Ducamp,
• Sara Luscieti,
• Xènia Ferrer-Cortès,
• Gaël Nicolas,
• Hana Manceau,
• Katell Peoc’h,
• Yvette Y. Yien,
• Caroline Kannengiesser,
• Laurent Gouya,
• Herve Puy,
• Mayka Sanchez

Affiliations

Sarah Ducamp

INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris

Sara Luscieti

Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona

Xènia Ferrer-Cortès

Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat

Gaël Nicolas

INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris

Hana Manceau

Laboratory of excellence, GR-EX, Paris, France; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona, Barcelona; Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, Barcelona; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes

Katell Peoc’h

Laboratory of excellence, GR-EX, Paris, France; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona, Barcelona; Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, Barcelona; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes

Yvette Y. Yien

Department of Biological Sciences, University of Delaware, Newark, DE

Caroline Kannengiesser

INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris, France; Institute of Predictive and Personalized Medicine of Cancer (IMPPC). Badalona

Laurent Gouya

INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes

Herve Puy

INSERM U1149 CNRS ERL 8252, Centre de Recherche sur l’inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France Paris; Laboratory of excellence, GR-EX, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes

Mayka Sanchez

Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat