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/...
science.org
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.
