Bernhard Ransmayr
bernhard-ransmayr.bsky.social
Bernhard Ransmayr
@bernhard-ransmayr.bsky.social
Immunology PhD Student @St. Anna Children's Cancer Research Institute (CCRI) and @Center for Molecular Medicine (CeMM) in Vienna.
Happy to announce the publication of our paper in Science Immunology. Here we describe the first patients with biallelic disease causing mutations in the LTBR gene encoding for the lymphotoxin beta receptor. 1/10
www.science.org/doi/10.1126/...
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation
Loss-of-function mutations in LTBR result in a stromal defect, leading to dysfunctional secondary lymphoid organs and combined immunodeficiency in humans.
www.science.org
November 25, 2024 at 11:56 AM
Reposted by Bernhard Ransmayr
New in #ScienceImmunology:

Research from @boztugk.bsky.social and team identifies an inborn error of #immunity caused by human LTβR deficiency, resulting in defective stromal cell signaling and impaired humoral immune responses.

Read more: www.science.org/doi/10.1126/...
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation
Loss-of-function mutations in LTBR result in a stromal defect, leading to dysfunctional secondary lymphoid organs and combined immunodeficiency in humans.
www.science.org
November 23, 2024 at 8:53 AM
Reposted by Bernhard Ransmayr
💡 Newly found genetic defect! In their study published in Science Immunology, @boztugk.bsky.social and @bernhard-ransmayr.bsky.social describe how LTBR-mutations disrupt secondary lymphoid organs, causing severe Immune Deficiencies (IEI). 🔗 tinyurl.com/57mmv5v7
November 25, 2024 at 9:02 AM