Masato Ogishi

TL;DR: In this paper , the authors report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency, which is a transcription factor activated by type I and III IFNs.

TL;DR: In this article , the authors reported six patients from five families with additional autoinflammatory and autoimmune manifestations, all of which are heterozygous for RELA mutations, which create a premature stop codon and exert a dominant negative effect.

TL;DR: A computational framework to prioritize etiologically relevant epitopes is proposed by integrating the putatively causal associations between HLA alleles and disease risk identified from population genetics, and a metric, termed “differential presentation index (DPI),” is defined, which principally reflects the relative difference of epitope abundance presented onto HLA molecules whose alleles are genetically predisposing to or protective against the specific disease.

TL;DR: In this article , the authors review 15 autosomal-dominant (AD) or -recessive (AR) IEI involving 11 transcription factors (TFs) and impairing interferon-gamma (IFN-γ) immunity, conferring a predisposition to mycobacterial diseases.

TL;DR: Using 21,146 human MHC-I-loaded peptide sequences, an accurate immunogenicity prediction is demonstrated through a sequence-based approximation of the contact potential profiles of peptides against pooled TCR repertoires in conjunction with MHC binding information, achieving the area under the curve (AUC) of 79%.