Open access
Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features
Hiroyuki Baba
Tadashi Hosoya
Taiki Yamaguchi
Takuji Itakura
Hirokazu Sasaki
N. Umezawa
Tetsuya Saito
Naoki Kimura
R. Koike
M. Yoshida
Masaki Shimizu
H. Kanegane
S. Yasuda
Medicine
Abstract
Baba et al. demonstrate the utility of multidisciplinary genetic evaluation for identifying inborn errors of immunity in adult rheumatology practice. They establish a workflow that improves diagnostic precision and management for patients with atypical rheumatic and musculoskeletal diseases.