A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease

• Published in: Journal of clinical immunology Vol. 42; no. 8; pp. 1638 - 1652
• Main Authors: Staels, Frederik, Lorenzetti, Flaminia, De Keukeleere, Kerstin, Willemsen, Mathijs, Gerbaux, Margaux, Neumann, Julika, Tousseyn, Thomas, Pasciuto, Emanuela, De Munter, Paul, Bossuyt, Xavier, Gijsbers, Rik, Liston, Adrian, Humblet-Baron, Stephanie, Schrijvers, Rik
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.11.2022; Springer Nature B.V
• Subjects: Adult; Biomedical and Life Sciences; Biomedicine; CD3 antigen; CD4 antigen; CD45RA antigen; CD8 antigen; Cell lines; Child; Complementation; CXCR3 protein; Genetic Predisposition to Disease; Helper cells; Humans; Immunology; Infectious Diseases; Interleukin 12; Interleukin 17; Interleukin 23; Interleukin-17 - genetics; Internal Medicine; Lymphocytes B; Lymphocytes T; Male; Medical Microbiology; Middle Aged; Mutation; Mutation - genetics; Mycobacterium Infections - etiology; Mycobacterium Infections, Nontuberculous - complications; Mycobacterium Infections, Nontuberculous - genetics; Nuclear Receptor Subfamily 1, Group F, Member 3 - genetics; Original; Original Article; Patients; Pediatrics; Phosphorylation; Receptors, Interleukin - genetics; Stat3 protein; Tuberculosis; γ-Interferon; mendelian susceptibility to mycobacterial disease; non-tuberculous mycobacteria; IFN-γ; inborn errors of immunity; th17; IL23R

Purpose Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. The most frequent genetic defects are found in IL12 or a subunit of its receptor. IL23R deficiency in MSMD has only been reported once, in two pediatric patients from the same kindred with...