S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION

• Natalia Borbaran Bravo,
• Larissa Doll,
• Ekaterina Deordieva,
• Sandro Bräuning,
• Benjamin Dannenmann,
• Mohammad Elgamacy,
• Viktoria Zakharova,
• Claudia Lengerke,
• Cornelia Zeidler,
• Karl Welte,
• Anna Shcherbina,
• Julia Skokowa,
• Maksim Klimiankou

Affiliations

Natalia Borbaran Bravo

1 Faculty of Medicine University Tuebingen, Gene and RNA Therapy Center (GRTC), Tuebingen, Germany

Larissa Doll

1 Faculty of Medicine University Tuebingen, Gene and RNA Therapy Center (GRTC), Tuebingen, Germany

Ekaterina Deordieva

3 Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Department of Oncology and Immunology, Moscow, Russia

Sandro Bräuning

2 University Hospital Tuebingen, Internal Medicine 2, Translational Oncology, Tuebingen, Germany

Benjamin Dannenmann

1 Faculty of Medicine University Tuebingen, Gene and RNA Therapy Center (GRTC), Tuebingen, Germany

Mohammad Elgamacy

2 University Hospital Tuebingen, Internal Medicine 2, Translational Oncology, Tuebingen, Germany

Viktoria Zakharova

5 National Medical Research Center for Endocrinology, Clinical data analysis department, Moscow, Russia

Claudia Lengerke

1 Faculty of Medicine University Tuebingen, Gene and RNA Therapy Center (GRTC), Tuebingen, Germany

Cornelia Zeidler

7 Hannover Medical School, Department of Hematology, Oncology, and Bone Marrow Transplantation, Hannover, Germany

Karl Welte

8 Severe Chronic Neutropenia International Registry, European Branch, Hannover, Germany

Anna Shcherbina

5 National Medical Research Center for Endocrinology, Clinical data analysis department, Moscow, Russia

Julia Skokowa

2 University Hospital Tuebingen, Internal Medicine 2, Translational Oncology, Tuebingen, Germany

Maksim Klimiankou

1 Faculty of Medicine University Tuebingen, Gene and RNA Therapy Center (GRTC), Tuebingen, Germany