Topic: NFKB disorders

Description:

Professor Dr. Bodo Grimbacher will moderate this session.
Mutations in NFKB1, NFKB2, or other components of the NFKB signaling network are arguably one of the most common monogenetic cause for inborn errors of immunity, going way beyond the phenotype of common variable immunodeficiency (CVID).
Moreover, as these genes are quite polymorphic, physicians and scientists are often left with variants of unknown significance (VUS) when working up their patients.
Learning objectives of this webinar of the ESID clinical working party are:
1. Understand the concept of mutations in different NF-B protein domains
2. Learn about the wide spectrum of possible clinical presentations of mutations in components of the NFKB signaling network
3. Get an update on current treatment and management approaches for patients with defects in NFKB signaling
To approach these topics, we have recruited a group of eminent figures in the field:

• Dr. Mikko Seppänen, Helsinki, will report on clinical phenotypes and treatment
• Dr. Manfred Fliegauf, Freiburg, will report on the different types of mutations in NFKB1 and NFKB2, and variant testing
• Dr. Tom Le-Voyer, Paris, will update us on the latest pathomechanism of NFKB2 insufficiency
• Dr. Christian Klemann, Leipzig, will report on the phenotype of NFKB2 mutations
• Dr. Manfred Hönig, Ulm, will discuss the question of bone marrow transplantation in these conditions
• and Katharina Thoma and Pia Hassunah, both MD students from Dr. Grimbacher, Freiburg, will report on their latest clinical research findings

The 2024 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."