-Author name in bold denotes the presenting author
-Asterisk * with author name denotes a Non-ASH member
Clinically Relevant Abstract denotes an abstract that is clinically relevant.

PhD Trainee denotes that this is a recommended PHD Trainee Session.

Ticketed Session denotes that this is a ticketed session.

509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Poster III

Symposia: Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital Program: Oral and Poster Abstracts
Type: Poster
Monday, December 11, 2023: 6:00 PM-8:00 PM
Halls G-H (San Diego Convention Center)

Willian R. Gomes, MSc1*, Vinicius S. Carvalho, MsC2*, Edson Z. Martinez, PhD2*, Shan Hama, MSc3*, Mohammad M. Karimi, PhD4*, Giorgio Napolitani, PhD4*, Ghulam Mufti, DM, FRCPath4* and Rodrigo T. Calado, MD, PhD2

1Ribeirao Preto School of Medicine, University of Sao Paulo, RIBEIRAO PRETO, AL, Brazil
2Ribeirao Preto School of Medicine, University of Sao Paulo, Ribeirao Preto, Brazil
3King’s College London, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, London, ENG, United Kingdom
4King’s College London, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, London, United Kingdom

Zuzanna Rydzynska, MSc1*, Dawid Grzela, PhD1,2*, Monika I Linder3*, Weronika Dobrewa, MSc4*, Zuzanna Urbanska1*, Bartlomiej Pawlik, MSc1*, Damian Krzyzanowski, PhD1,2*, Maciej Mazurek, MSc1*, Szymon Janczar, MD, PhD1*, Joanna Madzio, PhD1* and Wojciech Mlynarski, MD, PhD1*

1Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland
2Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland
3Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany
4Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lódz, Poland

Ana Catarina Menezes, PhD1, Natalie Deuitch, MS1*, Abdel G. Elkahloun, PhD2* and Paul Pu Liu, MD, PhD1

1Oncogenesis and Development Section, National Human Genome Research Institute, NIH, Bethesda, MD
2Microarray Core, National Human Genome Research Institute, NIH, Bethesda, MD

Joshua Baiel, MD1*, Daniel J Wegner, MS1*, Jennifer A Wambach, MD1* and Julia T. Warren, MD, PhD2,3

1Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, MO
2Department of Pediatrics, University of Pennsylvania, Philadelphia, PA
3Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA

Alejandro Ferrer, PhD1, Zachary D Stephens, Ph.D.2*, Susan M. Geyer, PhD3, Rachel A Simon4*, Terra L. Lasho, PhD5, Christy M Finke5*, Brittany Burnap1*, Lindsay A Mulvihill, CCRP6*, Tammy M McAllister, M.A.6*, Carolyn R. Rohrer Vitek, Ed.D. / M.S.6*, Konstantinos N Lazaridis1*, Angita Jain7*, Eric W Klee, PhD8*, Jean-Pierre A Kocher, Ph.D.8* and Mrinal M. Patnaik, MD, MBBS4

1Mayo Clinic, Rochester, MN
2Department of Computational Biology, Mayo Clinic, Rochester, MN
3Alliance Statistics and Data Management Center, Mayo Clinic, Rochester, MN
4Division of Hematology, Mayo Clinic, Rochester, MN
5Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN
6Center for Individualized Medicine, Mayo Clinic, Rochester, MN
7Mayo Clinic, Jacksonville, FL
8Computational Biology, Mayo Clinic, Rochester, MN

Timothy Chlon, PhD1, Emily Stepanchick2*, Christy M Finke3*, Terra L. Lasho, PhD3, Talha Badar, MD4, Alejandro Ferrer, PhD5 and Mrinal M. Patnaik, MD, MBBS3

1Cincinnati Children's Hospital, Cincinnati, OH
2Cancer and Blood Diseases Institute, Cincinnati Children's Hospital, Cincinnati, OH
3Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN
4Mayo Clinic, Jacksonville, FL
5Mayo Clinic, Rochester, MN

Noa Greenberg-Kushnir, MD1*, Assaf Arie Barg2*, Ginette Schiby, MD1*, Corine Mardoukh, MD1*, Nira Varda-Bloom, PhD3*, Diana Bar1*, Yair Anikster, MD, PhD4*, Bella Bielorai, MD4*, Amos Toren, MD, PhD1* and Elad Jacoby, MD5

1Sheba Medical Center, Ramat Gan, Israel
2National Hemophilia Center, Sheba Medical Center, Tel Hashomer, Israel; Amalia Biron Research Institute of Thrombosis and Hemostasis, Tel Aviv University, Israel., Tel Aviv, Israel
3Tel-Hashomer, Sheba Medical Center, Ramat-Gan, Israel
4Sheba Medical Center, Ramat-Gan, Israel
5Department of Pediatric Hematology-Oncology, Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel

Clarissa Gervasoni1*, Nadia Bertola2*, Alice Martina Giussani1*, Erica Dander, PhD1*, Valentino Bezzerri, PhD3*, Andrea Biondi, MD4,5, Paola Corti, MD4*, Piero Farruggia, MD6*, Giovanna Giagnuolo7*, Giuseppe Menna, MD7*, Anna Pegoraro, MD3*, Simone Cesaro8*, Marco Cipolli, MD3*, Carlo Dufour, MD9, Silvia Ravera, PhD10* and Giovanna D'Amico, BSc, PhD, MSc1*

1Tettamanti Center, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
2Molecular Pathology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
3Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
4Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy
5School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy
6Ospedali "Civico Di Cristina Benfratelli", Palermo, Italy
7Pediatric Hemato-Oncology Unit, Santobono-Pausilipon Hospital, Naples, Italy
8Pediatric Hematology-Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
9Hematology Unit, IRCCS G. Gaslini Children's Hospital, Genova, Italy
10Department of Experimental Medicine, University of Genoa, Genoa, Italy

Jana Block1,2,3*, Christina Rashkova1,2,3,4*, Irinka Castanon2*, Jessica Platon5*, Samaneh Zoghi2,3*, Mitsuhiro Fujiwara6*, Beatriz Chaves7,8,9*, Rouven Schoppmeyer10,11,12*, Caspar Van Der Made13,14*, Rocio Cabrera-Perez15*, Frederike Leonie Harms16*, Rico Chandra Ardy1,2,3*, Samin Alavi17*, Laia Alsina18,19,20*, Rainiero Avila Polo15*, Paula Sanchez Moreno21*, Raul Jimenez Heredia1,2,3,4*, Thomas Hannich3*, Johannes Huppa22*, Martin Distel1*, Winfried Pickl23,24*, Jeffrey Yoder25*, David Traver26*, Karin Engelhardt27*, Tobias Linden28*, Leo Kager1,4,29*, Sophie Hambleton27*, Alexander Hoischen13,14*, Sabine Illsinger28,30*, Zahra Chavoshzadeh31*, Kerstin Kutsche16*, Lydie Da Costa5,32,33,34*, Jaap Van Buul10,11,12*, Joan Calzada-Hernandez19,35*, Jordi Anton19,20,35*, Olaf Neth21*, Julien Viaud36*, Akihiko Nishikimi6*, Loic Dupre2,7,37* and Kaan Boztug1,2,3,4,29*

1St. Anna Children's Cancer Research Institute, Vienna, Austria
2Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
3CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
4Medical University of Vienna, Department of Pediatrics and Adolescent Medicine, Vienna, Austria
5HEMATIM UR4666, Université de Picardie Jules Verne, Amiens, France
6Biosafety Division, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan
7Toulouse Institute for Infectious and Inflammatory Diseases, INSERM, CNRS, Paul Sabatier Universtiy, Toulouse, France
8National Institute of Science and Technology on Neuroimmunomodulation, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil
9Computational Modeling Group, Oswaldo Cruz Foundation (Fiocruz), Eusebio, Brazil
10Molecular Cell Biology Lab, Department of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands
11Vascular Cell Biology Lab, Department of Medical Biochemistry, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
12Leeuwenhoek Center for Advanced Microscopy, Section of Molecular Cytology, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, Netherlands
13Radboud University Medical Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands
14Department of Human Genetics, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands
15Department of Pathology, Hospital Universitario Virgen del Rocío, Sevilla, Spain
16Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
17Pediatric Congenital Hematologic Disorders Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran (Islamic Republic of)
18Clinical Immunology and Primary Immunodeficiencies Unit, Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain
19Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu, Barcelona, Spain
20Department of Surgery and Surgical Specializations, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Barcelona, Spain
21Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Institute of Biomedicine of Seville (IBIS)/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Sevilla, Spain
22Medical University of Vienna, Institute for Hygiene and Applied Immunology, Center for Pathophysiology, Infectiology and Immunology, Vienna, Austria
23Karl Landsteiner University of Health Sciences, Krems, Austria
24Medical University of Vienna, Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Vienna, Austria
25Department of Molecular Biomedical Sciences, North Carolina State University, Raleigh, NC
26Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA
27Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, United Kingdom
28Klinik für Neuropädiatrie und Stoffwechselerkrankungen, Zentrum für Kinder- und Jugendmedizin, Oldenburg, Germany
29St. Anna Children's Hospital, Vienna, Austria
30Centre for Pediatric and Adolescent Medicine, Department of Pediatric Kidney, Liver and Metabolic Diseases and Neuropediatrics, Hannover Medical School, Hannover, Germany
31Allergy and Clinical immunology Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran (Islamic Republic of)
32University of Paris, Paris, France
33Service d'Hématologie Biologique (Hematology Diagnostic Lab), AP-HP, Hôpital R. Debré, Paris, France
34Laboratory of Excellence for Red Cells, LABEX GR-Ex, Paris, France
35Pediatric Rheumatology Division, Hospital Sant Joan de Déu Barcelona, Esplugues de Llobregat, Barcelona, Spain
36Institute of Cardiovascular and Metabolic Diseases (I2MC), INSERM UMR1297, Paul Sabatier University, Toulouse, France
37Medical University of Vienna, Department of Dermatology, Vienna, Austria

Nicholas F. DeCleene, BS1,2, Duc T. Nguyen, MD, PhD2*, Susan E. Kirk, PA-C1,2*, Hannah L. Helber, MS1,2*, Ghadir S. Sasa, MD1,2* and Alison A. Bertuch, MD, PhD1,2

1Cancer and Hematology Center, Texas Children's Hospital, Houston, TX
2Department of Pediatrics, Baylor College of Medicine, Houston, TX

Seila De Leon1*, Michelly Sampaio De Melo, MD1*, Nisha Patel, DO1, Alina Dulau Florea, MD1,2, Irina Maric, MD, MSc3, Raul C. Braylan, MD3, Weixin Wang1*, Matthew Merguerian4*, Elizabeth J. Andrews4,5*, Lea Cunningham, MD4,6*, David J. Young, MD, PhD4, Shawn Chong4*, Natalie Deuitch, MS4*, Joie Davis4*, Kathleen Craft, B.S.N., R.N.7*, Theo Heller, MD8*, Pamela Frischmeyer-Guerrerio9*, Paul Pu Liu, MD, PhD4 and Katherine R. Calvo, MD, PhD3,6

1Hematology Section, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD
2Department of Pathology, Molecular & Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Mount Sinai Health System, New York, NY
3Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD
4Oncogenesis and Development Section, National Human Genome Research Institute, NIH, Bethesda, MD
5Immune Deficiency Cellular Therapy Program, National Cancer Institute, NIH, Bethesda, MD
6Myeloid Malignancies Program, National Institutes of Health, Bethesda, MD
7Oncogenesis and Development Section, National Human Genome Research Institute, NIH, Bethesda
84Translational Hepatology Section, Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD
9Laboratory of Allergic Disease, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD

Alaina M Kelly, MD1, Lauren G Banaszak, MD2, Kelcy Smith-Simmer, MMSc, CGC3*, Kyle Shoger1*, Sarah M Donohue, MD4*, Erin Lowery, MD, MS1* and Jane E Churpek, MD, MS1

1Department of Medicine, The University of Wisconsin-Madison, Madison, WI
2Department of Medicine Division of Hematology, Medical Oncology and Palliative Care, University of Wisconsin–Madison, Madison, WI
3Oncology Genetics, The University of Wisconsin Carbone Cancer Center, Madison, WI
4Department of Medicine, Division of Rheumatology, The University of Wisconsin-Madison, Madison, WI

*signifies non-member of ASH