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

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 …

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

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent
infections affecting the nails, skin and oral and genital mucosae caused by Candida spp …

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 …

Dermatophytoses (ringworms) are among the most frequent skin infections and are a highly
prevalent cause of human disease worldwide. Despite the incidence of these superficial …

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

Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging
from increased susceptibility to infections to significant immune dysregulation, often leading …

Candida species, including C. albicans in particular, can cause superficial or invasive
disease, often in patients with known acquired immunodeficiencies or iatrogenic conditions …

Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which
production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth …