Abstracts & Posters

presenting Wednesday, September 22 at 4:40p EST

CLINICAL AND TREATMENT HISTORY OF PATIENTS WITH PARTIAL DIGEORGE SYNDROME AND AUTOIMMUNE CYTOPENIA AT MULTIPLE CENTERS

Priya K. Patel, MD*; Michell Lozano Chinga, MD; Sonia Joychan, MD; Ahmad B. Shaker MD; Boglarka Ujhazi BS; Maryssa Ellison BS; Sumai Gordon BS; Daime Nieves APRN; Anh Thuy Nguyen MPH; Krisztian Csomos PhD; Don Eslin, MD; Zeinab A. Afify, MD; Kelly Walkovich, MD; Markus Seidel, MD; Svetlana Sharapova, PhD; Oksana Boyarchyk, PhD; Elena Latysheva, PhD; Irina Tuzankina; Elena Vlasova, PhD; Irmel Ayala MD; Panida Sriaroon MD, Emma Westermann-Clark, MD, Jolan E. Walter MD/PhD

Genetic Testing for Patients with Primary Immunodeficiencies: Precise Diagnosis with Comprehensive Next-Generation Sequencing

Zoe Powis, Alicia Scocchia, Paivi Kokkonen, Elina Hirvonen, Emma Martensson, Hatice Duzkale, Kim Gall, Joe Jacher*, Inka Saarinen, Johanna Sistonen, Samuel Myllynkangas, Juha Koskenvuo, Lotta Koskinen, Tero-Pekka Alastalo

Blueprint Genetics

presenting Wednesday, September 22 at 4:30p EST

PARTIAL DIGEORGE SYNDROME AND LYMPHOMAS

Michell Lozano-Chinga MD, Natalie Diaz-Cabrera MD, Farhad Khimani MD, Karin Chen MD, John Bohnsack MD, Jolan Eszter Walter MD, PhD, Farnaz Tabatabaian MD, Zeinab Afify MD

OBSERVED TREATMENT ADJUSTMENTS AND COMPLICATIONS IN AN OVARIAN CANCER PATIENT WITH INBORN ERROR OF IMMUNITYE SYNDROME AND LYMPHOMAS

Mammadova, J.*, University of South Florida, Tampa, FL, Redden, A., University of Southern California, Los Angeles, CA, Cruz, R., University of South Florida, Tampa, FL, Ellison, M., University of South Florida, Tampa, FL, Gatewood, T., H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, Duff, C., University of South Florida, Tampa, FL, Somboonwit, C., University of South Florida, Tampa, FL, Chakrapol, S., University of South Florida, Tampa, FL, Ismail-Khan, R., H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, Walter, J., University of South Florida, Tampa, FL.

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UNC13D mutations leading to adolescent onset atypical hemophagocytic lymphohistiocytosis

Saara Kaviany DO, Yasmin Khan MD, Daniel E. Dulek MD,  Ruben Barricarte PhD, Janet Markle PhD, Heather Pua MD PhD, Tricia M. Paulley RN, Sam Shaefer,  Anna Patrick MD, Jeffrey C. Rathmell PhD, James A. Connelly MD

CTPS1 Deficiency Presenting with EBV-Driven Hemophagocytic Lymphohistiocytosis and Lymphoma

Saara Kaviany Do, Yasmin Khan MD, Daniel E. Dulek MD, Jeffrey C. Rathmell MD, Heather Pua MD PhD, Tricia M. Paulley RN, Ruben Barricarte PhD, Janet Markle PhD, Anna Patrick MD, Sam Shaefer, James A. Connelly MD

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IPEX and Rubenstein-Taybi syndrome: case of 2-year-old child with both diagnoses

Molly Albrecht, BA; Thomas Michniacki, MD

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THROMBOTIC MICROANGIOPATHY POST SEPSIS: A CASE REPORT

Desai NJ*, Hosahalli Vasanna S, Egler RA, Ahuja SP, Pateva IB

 

Case Western Reserve University University Hospitals Rainbow Babies & Children's Hospital
Cleveland, OH

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AUTOIMMUNITY AND SEVERE PLATELET REFRACTORINESS IN ACQUIRED APLASTIC ANEMIA: THERAPEUTIC CHALLENGES

Hosahalli Vasanna S*, Desai NJ, Dalal JD, Dallas MH, Pateva IB

Rainbow Babies and Children's Hospital/ University Hospital Case Western Reserve University Cleveland, Ohio

USE OF OBINUTUZUMAB AS ALTERNATIVE MONOCLONAL ANTI-CD20 ANTIBODY IN A PATIENT WITH REFRACTORY EVANS SYNDROME AND ANTI-RITUXIMAB ANTIBODIES.

Blase, JR - University of Michigan, Ann Arbor, MI
Frame, D - University of Michigan, Ann Arbor, MI
Michniacki, TF - University of Michigan, Ann Arbor, MI
Walkovich, KJ - University of Michigan, Ann Arbor, MI

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SOCS1 HAPLOINSUFFICIENCY IN A PATIENT PRESENTING WITH REFRACTORY ITP, ARTHRALGIAS, AND BONE MARROW HYPOCELLULARITY?

Ngo S* Department of Pediatrics, University of Michigan, Ann Arbor, MI Lapinski J Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Michigan, Ann Arbor, MI; Walkovich K Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Michigan, Ann Arbor, MI; Mohan S Division of Pediatric Rheumatology, Department of Pediatrics, University of Michigan, Ann Arbor, MI Hannibal MC Division of Genetics, Metabolism & Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI ; DeMeyer L Division of Genetics, Metabolism & Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI; Michniacki T Division of Pediatric Hematology/Oncology, Department of Pediatrics, C.S. Mott Children’s Hospital, University of Michigan, Ann Arbor, MI

X-linked Lymphoproliferative Disease: Diagnostic Challenge in a Middle-aged Male

Van Meerbeke SW* Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh PA Rocco JM National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD Petrov AA Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh PA

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FSTL-1 Impacts Hematopoietic Stem Cell Engraftment in a Cell-Intrinsic Manner

Monlish DA* (1), Henkel M (2), Partyka J (2), Campfield BT (2) and Byersdorfer CA (1)
UPMC Children's Hospital of Pittsburgh Department of Pediatrics; Division of Blood and Marrow Transplantation and Cellular Therapies (1) and Division of Pediatric Infectious Diseases (2), Pittsburgh, PA

contact: dam294@pitt.edu

TRENDS IN PEDIATRIC PRIMARY IMMUNODEFICIENCY: INCIDENCE, UTILIZATION, HEMATOPOIETIC STEM CELL TRANSPLANTATION, AND MORTALITY

Eddens ,T*(1), Mack, M(2), McCormick M(3), Chong, H(1), Kalpatthi R(3)

1-UPMC Children’s Hospital of Pittsburgh, Department of Allergy/Immunology, Pittsburgh, PA
2-UPMC Children’s Hospital of Pittsburgh, Pediatric Residency Program, Pittsburgh, PA
3-UPMC Children’s Hospital of Pittsburgh, Department of Hematology/Oncology, Pittsburgh, PA

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NBAS-associated Disease Manifesting with Evans Syndrome

Dilawar Khokhar, Mark C. Hannibal, Lauren DeMeyer, Laura Howe, Beth Kurt, Yelena Kier, Kristle Haberichter, Kelly Walkovich

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