Fabian Hauck, Germany

Klinikum der Universität München Dr von Hauner Children's Hospital
Curriculum Vitae Name: Fabian Harald Hauck Academic Degree: MD, PhD (PD Dr. med. Dr. sci. nat.) Academic Studies: 04/98-09/98 Romanic Philology, Julius-Maximilians-University Würzburg, Germany 10/98-09/99 Medicine, Johannes-Gutenberg-University Mainz, Germany 10/99- 05/05 Medicine, Julius-Maximilians-University Würzburg, Germany Medical Thesis (MD): 10/01-07/03 Laboratory Prof. Dr. E. Serfling, Department of Molecular Pathology, Institute of Pathology, University Würzburg, Germany Immunological Thesis (PhD): 10/09-11/13 Laboratory of Prof. Dr. A. Fischer, University Paris Descartes, Sorbonne Paris, France Habilitation (Assistant Professor): 08/17 Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University München, Germany Clinical Career: 08/05-09/09 Assistant Physician, University Children’s Hospital, Medical Faculty Carl Gustav Carus, Technical University Dresden, Germany. 10/09-09/12 Assistant Physician, Department of Pediatric Hematology and Immunology, Hôpital Necker - Enfants Malades, Paris, France. 10/12-09/13 Assistant Physician, Department Hematology, Oncology, Stem Cell Transplantation and Immunology, Dr. von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany 09/13-09/15 Consultant Pediatrician, Department Hematology, Oncology, Stem Cell Transplantation and Immunology, Dr. von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany Since 10/13 Head of Immunological Diagnostics Laboratory, Dr. von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany Since 10/15 Head of Immunodeficiency Unit, Dr von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany Since 04/16 Consultant Pediatric Hematologist and Oncologist Dr. von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany Since 07/16 Consultant Immunologist with diagnostic ability, German Society for Immunology (DGfI) Since 08/16 Senior Physician, Department of Pediatric Immunology and Rheumatology, Dr. von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany Scientific Career: 10/01-07/03 MD-Programm Medicine, Institute of Pathology, University Würzburg, Germany 10/09-09/12 PhD-Program Immunobiology, University Paris Descartes, Sorbonne Paris, France Since 10/14 Principal Investigator of the research group „Adaptive Immunodeficiencies“, Dr von Hauner University Children's Hospital, Ludwig-Maximilians-University, Munich, Germany Since 12/16 Member of the Hauner iPSC (integrated Pediatric Study Center) executive committee 06/2017 List place 2, Full Professor for Pediatric Immunology, University Children’s Hospital, Medical Faculty Carl Gustav Carus, Technical University Dresden, Germany 05/2019 Congress President of the 36th annual meeting 2019 of the German Speaking Working Party for Pediatric Immunology (API) University didactics: 10/2015 MeCuM – Intensive-Didactics-Seminar, Institute for Medical Education, Ludwig-Maximilians-University, Munich, Germany 01/2016 MeCuM – Intensiv-Teaching-Seminar (InSeL) Abschlusstag, Institute for Medical Education, Ludwig-Maximilians-University, Munich, Germany Awards: 09/13 Walter-Hitzig-Award 2013, Pediatric Immunology Working Party (API), Germany 09/14 Hans-Hench-Promotion-Award for Clinical Immunology 2014, German Society for Immunology (DGfI) Additional qualification: 06/14 Pediatric genetic counseling, Bavarian Medical Association, Munich, Germany 04/15 Technical qualification for radiation protection, Bavarian State Office for Environment, Munich, Germany 05/17 Qualification Principal Researcher in Clinical Trials (GCP/AMG), Munich Study Center, Munich Germany 07/17 Refresher Principal Researcher in Clinical Trials (GCP/AMG), Munich Study Center, Munich Germany 05/19 Intensive-Basis-Seminar „Excellent Leadership“ for Professors and Assistant Professors, Center for Leadership and People Management Languages: German Native tongue English CEFR level C2 French CEFR level C2

Presenter Of 4 Presentations

E-Poster Discussion Autoinflammation

HETEROZYGOUS OAS1 GAIN-OF-FUNCTION VARIANTS CAUSE A POLYMORPHIC AUTOINFLAMMATORY AND IMMUNODEFICIENCY SYNDROME

Lecture Time
13:15 - 13:22
Room
Station 3
Date
19.09.2019, Thursday
Session Time
13:15 - 14:20
Presentation Topic
Autoinflammation

Abstract

Background and Aims

The genetic, molecular, and cellular analysis of autoinflammatory and immunodeficiency disorders contributes to our understanding of human immunity and leads to the development of targeted therapies. Oligoadenylate synthase 1 (OAS1) is an intracellular double-stranded RNA sensor that generates the second messenger 2'-5'-oligoadenylate to activate RNaseL as a means of antiviral defense. We analyzed four unrelated patients with a polymorphic syndrome of fever, dermatitis, pulmonary alveolar proteinosis, inflammatory bowel disease, and hypogammaglobulinemia.

Methods

We performed exome and transcriptome sequencing, RNA and protein biochemistry, heterologous and autologous molecular and cellular functional analyses, cellular and serologic immune phenotyping, and allogeneic hematopoietic stem cell transplantation.

Results

We found three de novoheterozygous OAS1variants in four unrelated patients. Variant OAS1 proteins showed double-stranded RNA-independent increased in vitro enzyme activity. They constitutively activated RNaseL resulting in increased RNA cleavage in a heterologous cell system as well as in primary monocytes and B cells. This lead to an increased interferon response, spontaneous monocyte and B cell apoptosis, impaired monocyte and B cell differentiation and function, and impaired cellular co-stimulation towards T cells. Allogeneic hematopoietic stem cell transplantation corrected the otherwise lethal phenotype.

Conclusions

Heterozygous OAS1 gain-of-function variants cause a polymorphic autoinflammatory and immunodeficiency syndrome that can be cured by allogeneic hematopoietic stem cell transplantation. OAS1 emerges as a critical regulator of monocyte and B cell human biology.

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Plenary Session No Topic Needed

EBV POSITIVE SMOOTH MUSCLE TUMORS AS MANIFESTATION OF INBORN ERRORS OF IMMUNITY

Lecture Time
10:05 - 10:30
Room
Bozar
Date
20.09.2019, Friday
Session Time
08:50 - 10:30
Presentation Topic
No Topic Needed

Abstract

Abstract Body

EBV positive smooth muscle tumors are a rare oncological entity that can develop in secondary immunodeficiency such as human immunodeficiency virus-infection or solid organ transplantation. In addition, in rare pediatric cases EBV positive smooth muscle tumors can develop in the context of primary immunodeficiency such as CARMIL2 deficiency. In secondary immunodeficiency and when the underlying condition can not be cured, the treatment of EBV positive smooth muscle tumors is based on surgery in combination with antiretroviral and reduced or altered immunosuppressive pharmacotherapy, respectively. However, when cellular immunity cannot be reestablished or EBV positive smooth muscle tumors cannot completely be resected, long-term survival is poor. Importantly, allogeneic hematopoietic blood stem cell transplantation resulted in cure of immunodeficiency and EBV positive smooth muscle tumors in a GATA-2 deficient patient and is ongoing in a CARMIL2 deficient patient. Thus, in the absence of secondary immunodeficiency patients presenting with EBV positive smooth muscle tumors should be thoroughly evaluated for primary immunodeficiency disorders and patients with known primary immunodeficiency presenting with smooth muscle tumors should be evaluated for an underlying ectopic EBV infection. Allogeneic hematopoietic stem cell transplantation should be taken into consideration in these cases.

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Industry Symposium No Topic Needed

RECOMMENDATIONS FOR THE MANAGEMENT OF SECONDARY HYPOGAMMAGLOBULINAEMIA

Lecture Time
13:30 - 13:50
Room
Silver
Date
20.09.2019, Friday
Session Time
12:45 - 14:15
Presentation Topic
No Topic Needed
Industry Symposium No Topic Needed

DISCUSSION AND CLOSING REMARKS

Lecture Time
14:10 - 14:15
Room
Silver
Date
20.09.2019, Friday
Session Time
12:45 - 14:15
Presentation Topic
No Topic Needed

Moderator Of 1 Session

Plenary Session
Room
Bozar
Date
19.09.2019, Thursday
Session Time
08:50 - 10:30