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

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

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …

The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …

CMC, invasive candidiasis, invasive aspergillosis, deep dermatophytosis, pneumocystosis,
and endemic mycoses can all be caused by PIDs. Each type of infection is highly suggestive …

Background Gain-of-function (GOF) mutations in the human signal transducer and activator
of transcription 1 (STAT1) manifest in immunodeficiency and autoimmunity with impaired TH …

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent
infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C …

Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of
the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology …

To the Editor: Recently, Xing et al 1 demonstrated the role of cytotoxic T lymphocytes in
alopecia areata (AA) and provided important mechanistic information on the pathogenic T …

Background Gain-of-function (GOF) mutations in signal transducer and activator of
transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune …