Topic:

The Power of Flow-based assays in Diagnostics of IEI

Description:

This session will be hosted by Mirjam van der Burg who is an Associate Professor of Primary Immunodeficiencies at Leiden University Medical Center (the Netherlands). The session will also be chaired by Klaus Warnatz from the Department of Rheumatology and Clinical Immunology, University of Freiburg (Germany) and Clara Franco Jarava from the Department of Immunology, University Hospital Vall d'Hebron (Spain).

During this session of the Grand Rounds, we will explore the topic, "The Power of Flow-based assays in Diagnostics of IEI." The schedule of presentations is as follows:

1. An introductory talk by Mirjam van der Burg.
2. Talk from Tomas Kalina, "The sense of T-cell phenotyping in diagnostics of IEI."
3. Talk from Samuel Chiang: "NK cell function assays in cellular diagnostics."
4. Talk from Hanna IJspeert: "Phospho-assays for research and diagnostics of IEI."
5. Talk from Evelien Sprenkeler: "Disorders of neutrophil development and function."
6. Q&A session.

Speakers:

Associate Professor Mirjam van der Burg

Mirjam van der Burg is head of the Laboratory for Pediatric Immunology at the Dept. of Pediatrics, Leiden University Medical Center. Her research focuses on inborn errors of immunity, especially severe combined immunodeficiency (SCID), B-cell deficiencies and DNA repair disorders. Through cellular and molecular studies, she aims to provide better understanding of the effect of monogenetic defects on B and T-cell differentiation and antigen receptor repertoire formation. The studies are directly linked to early diagnosis of SCID via newborn screening and immune reconstitution after hematopoietic stem cell transplantation.

Professor Tomáš Kalina

Prof. Tomáš Kalina (Ph.D., MD) is a Professor at the Paediatric Haematology and Oncology Department, 2nd Faculty of Medicine, Charles University, Prague (Czech Republic) where he is also serving as a Vice-Dean for research.

He is a board member of EuroFlow consortium and CD nomenclature committee member, in 2022 he received the Joe T. Trotter Leader in Cytometry Technology Award from ISAC.

Dr. Samuel Chiang

Sam obtained his PhD from Karolinska Institute, Sweden, at the laboratory of Yenan Bryceson where he worked on creating and refining assays for the diagnosis of familial HLH. He then moved to Cincinnati Children's Hospital (USA) where, under Rebecca Marsh and Jack Blessing, he now validates clinical tests related to primary immunodeficiencies with a big focus on flow cytometry based assays.

Dr. Hanna Ijspeert

Dr. Hanna IJspeert is the group leader of the Primary Immunodeficiency Disorder (PID) group at the Department of Immunology at the Erasmus Medical Center in Rotterdam, the Netherlands. She did her PhD in the group of Dr. Mirjam van der Burg, where she investigated V(D)J recombination defects and immune repertoire sequencing.
Her current research line focusses on granulomatous disease in patients with inborn errors of immunity (IEI) and she is responsible for the functional validation of genetic defects in patients with IEI. In addition, her group develops (new) functional tests for IEI for the routine diagnostic laboratory medical immunology at the Erasmus MC.

Dr. Evelien Sprenkeler

Evelien Sprenkeler started her PhD training under the mentorship of Professor Taco Kuijpers and Dr.Robin van Bruggen at Sanquin Research, Amsterdam in 2017. She focused on neutrophil host defense mechanisms, primarily by studying patients with rare innate immune defects, and defended her thesis in April 2023. In 2021 she started her training as a Medical Immunologist – with a primary focus on immunodeficiencies - at the Radboud University Medical Center in Nijmegen.

The 2023 ESID Grand Rounds are supported by the Barcelona PID foundation:

"The Barcelona PID Foundation is a non-profit organization founded in 2014 by patients and healthcare professionals. We work to provide support and resources to patients with PID and their
families, to increase awareness of these rare diseases among non-immunologists and the general public, and to promote high-quality research in this field."