Tofacitinib is the first Janus kinase (JAK) inhibitor commercially approved for the treatment of
rheumatoid arthritis. This compound and a number of other JAK inhibitors are currently …

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

The signal transducer and activator of transcription (STAT) 1 protein plays a key role in the
immune response against viruses and other pathogens by transducing, in the nucleus, the …

JAKs and STATs in Immunity, Immunodeficiency, and Cancer | New England Journal of Medicine
Skip to main content The New England Journal of Medicine homepage Advanced Search …

Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …

Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1)
with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES) …

Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …

Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal
dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here …

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 …

Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …