Recurrent, sterile inflammatory responses to surgery and trauma in a patient with a heterozygous, truncating NFKB1 variant are described. This case illustrates the autoinflammatory
BCL10 deficiency is a rare combined immunodeficiency characterized by severe infections, chronic diarrhea, hypogammaglobulinemia, and impaired lymphocyte activation despite preserv
Mouse Unc93b1 was identified in 2006 by forward genetics as an ER membrane protein essential for the activity of the endosomal nucleic acid-sensing receptors TLR3, TLR7, and TLR9.
First-in-human Phase I/II trial with only 3 patients treated and 6-month follow-up data reported for one patient; early data suggest safety and potential efficacy but remain insufficient for definitive clinical guidance.