In gain-of-function STAT1 mutations, chronic mucocutaneous candidiasis disease (CMCD)
represents the phenotypic manifestation of a complex immunodeficiency characterized by …

Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida
infections of the skin, mucous membranes, and nails. A 26‐month‐old girl was admitted with …

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

Autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) is a rare and severe
primary immunodeficiency that is characterized by mucocutaneous fungal infection …

This paper describes the heterogeneous clinical phenotype of a cohort of nine patients
diagnosed with heterozygous mutations in STAT1. We report data of extended …

Purpose Gain-of-function (GOF) mutations in the signal transducer and activator of
transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune …

Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary
immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial …

Background Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to
candida infection of skin, nails, and mucous membranes. Patients with recessive CMC and …

CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and
mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 …

In humans, recessive loss-of-function mutations in STAT1 are associated with mycobacterial
and viral infections, whereas gain-of-function (GOF) mutations in STAT1 are associated with …