Most known disease-causing mutations occur in protein-coding regions of DNA. While some
of these involve a loss of protein function (eg, through premature stop codons or missense …

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by
the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five …

Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency
have been diagnosed over the last 20 years. They typically suffer from invasive …

Non-tuberculous mycobacteria cause a broad range of clinical disorders, from cutaneous
infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated …

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …

Tuberculosis (TB), caused by Mycobacterium tuberculosis (M. tb) and a few related
mycobacteria, is a devastating disease, killing more than a million individuals per year …

In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …

Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting
cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both …

Protein glycosylation is an important epigenetic modifying process affecting expression,
localization, and function of numerous proteins required for normal immune function …