Clinical Working Party

February 2023: Diagnosis and Management of Patients with Pathogenic Mutations in CTLA4 or LRBA

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ESID Grand Rounds Webinar February Website 949x315

Date: Monday, 13 February 2023, 17:00 CET

Please, click here to view the webinar video.


Diagnosis and Management of Patients with Pathogenic Mutations in CTLA4 or LRBA.

Both, CTLA4 insufficiency and LRBA deficiency belong to the most prevalent diseases within the filed of inborn errors of immunity. While CTLA4 insufficiency is an autosomal-dominant trait with a reduced penetrance, LRBA deficiency seems to strictly follow autosomal recessive inheritance and displays full penetrance. However, due to their common pathomechanism (Lo et al, Science 2015) both conditions not only share a similar phenotype, but may also benefit form common management protocols. Such protocols have recently been published/suggested but need further improvement and dissemination, for which this seminar will be one forum.

After participating in this webinar, participants should be able to:

. Define how to diagnose patients with CTLA4- or LRBA deficiency
. Describe contemporary management of patients with CTLA4 insufficiency
. Describe contemporary management of patients with LRBA deficiency
. Discuss the role of HSCT in managing CTLA4- and LRBA deficiency
. Discuss the value of CTLA4-Fc in the management of CTLA4- and LRBA deficiency
. Describe the role of modifying factors in CTLA4- and LRBA deficiency


Bodo v2

  • Moderator: Bodo Grimbacher, MD, PhD
    @Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany

Prof. Bodo Grimbacher is a physician scientist and the Vice-Director of the Institute for Immunodeficiency at the University Hospital Freiburg. Additionally, he is an honorary consultant for the Department of Immunology at the Royal Free Hospital, University College London, where until 2011 - when he returned to work in Freiburg (Germany) - he was a EU-Marie-Curie team leader. Previously, he was lecturer and senior scientist at the Department of Clinical Immunology, Freiburg, Germany. He completed his postdoc at the NIH, National Human Genome Institute. Amongst his awards and honors, he was granted the Emmy-Noether Fellowship of the Deutsche Forschungsgemeinschaft (DFG), the Marie-Curie Excellence Grant of the European Commission, the Georges Köhler Award of the German Immunology Society (DGfI), the Richard Farr Memorial Lectureship at AAAAI, the Rudolf-Schoen Prize from the Medizinische Hochschule Hannover, and the Thieme prize from the Leopoldina, the German Research Society.

Elena v2

  • Elena Sindram 
    PhD Student @Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany

Elena Sindram is a PhD student in the research group of Prof. Bodo Grimbacher at the Center for Chronic Immunodeficiency at the University Medical Center Freiburg, where she is investigating vesicle trafficking and cytoskeleton abnormalities in LRBA deficiency and CTLA-4 insufficiency. She studied Biology in Freiburg and completed her Master’s degree in immunology after describing a family with a novel mutation in ARPC5, a subunit of the Arp2/3-complex, which she also did in the group of Prof. Bodo Grimbacher.

Gulzu v2

  • Gulbu Uzel, MD
    @Division of Intramural Research (NIAID), National Institutes of Health, Virginia, USA

Dr. Gulbu Uzel is a clinician scientist and a clinical immunologist with expertise, national and international reputation in the fields of human immunodeficiency disorders. She has worked at the NIH and North-western University, initiated, founded and built the Primary Immunodeficiency Clinic at the NIH, and have discovered and described two critical human defects: PIK3CD GOF mutations leading to lymphoproliferation and immunodeficiency and CTLA-4 haploinsufficiency leading to immune dysregulation and autoimmunity. The overall goal of her research and clinical work is to define the mechanisms of immune dysregulation for the inborn errors of immunity and to describe new genes altering immune responses in patients with systemic autoimmunity. She has active clinical protocols and continue to receive referrals for patients with either immune problems that await to be defined genetically or those with known genetic defects that have been very difficult to manage.

Safa v2

  • Safa Baris, MD
    @Marmara University Hospital, Isil Barlan Translational Medicine Research Center, Istanbul, Turkey

Safa Baris is a Professor of Pediatric Immunology at Marmara University Hospital in Istanbul, Turkey. His major interest in the field of Inborn errors of immunity (IEIs) is related to work on clinical characterization and treatment of several immunodysregulatory disorders including LRBA, CTLA-4 deficiencies, IPEX, and STAT1-gain of function. Recently, he established a local registry for LRBA-and CTLA-4-deficient patients aiming to understand the natural history of these diseases and investigate the role of abatacept in controlling disease manifestations.

Mate v2

  • Máté Krausz, MD
    @Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany

Mate Krausz studied medicine at Semmelweis University in Budapest, Hungary. Now he is working as a clinician scientist at the Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI) at the University of Freiburg with the main focus on primary immunodeficiencies and the gut microbiome.

Claudia v2

  • Claudia Wehr, MD
    @University Medical Center Freiburg, Germany

Dr. Claudia Wehr is a clinician scientist trained in internal medicine, clinical immunology and hematology/oncology. She is currently working in the transplant and cell therapy team at the University Medical Center Freiburg, Germany. Her research interest is allogeneic HCT in adults with IEI, secondary immunodeficiency and immunologcial reconstitution after cellular therapy.

Carsten v2

  • Carsten Speckmann, MD
    @Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany

Carsten Speckmann is senior lecturer at the Faculty of Medicine of the Albert Ludwig University Freiburg, Germany. He works as consultant for Pediatric Immunology and Hematopoietic Stem Cell Transplantation (HSCT) at the Freiburg University Medical Center’s Department for Pediatric Hematology/Oncology and the Center for Chronic Immunodeficiency (CCI). His research group has a focus on natural history studies for inborn errors of immunity (IEI) treatable by HSCT and/or targeted therapies.


February 13, 2023 17:00 CET in Amsterdam, Berlin, Rome, Stockholm, Vienna