Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease
L Dotta, O Scomodon, R Padoan, S Timpano… - Clinical …, 2016 - Elsevier
In gain-of-function STAT1 mutations, chronic mucocutaneous candidiasis disease (CMCD)
represents the phenotypic manifestation of a complex immunodeficiency characterized by …
represents the phenotypic manifestation of a complex immunodeficiency characterized by …
Gain‐of‐Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
S Eren Akarcan, E Ulusoy Severcan… - Case reports in …, 2017 - Wiley Online Library
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 …
infections of the skin, mucous membranes, and nails. A 26‐month‐old girl was admitted with …
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
J Toubiana, S Okada, J Hiller… - Blood, The Journal …, 2016 - ashpublications.org
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …
Treatment options for chronic mucocutaneous candidiasis
FL van de Veerdonk, MG Netea - Journal of Infection, 2016 - Elsevier
Autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) is a rare and severe
primary immunodeficiency that is characterized by mucocutaneous fungal infection …
primary immunodeficiency that is characterized by mucocutaneous fungal infection …
[HTML][HTML] Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease
L Dotta, O Scomodon, R Padoan, S Timpano… - Data in brief, 2016 - Elsevier
This paper describes the heterogeneous clinical phenotype of a cohort of nine patients
diagnosed with heterozygous mutations in STAT1. We report data of extended …
diagnosed with heterozygous mutations in STAT1. We report data of extended …
[HTML][HTML] The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1
M Depner, S Fuchs, J Raabe, N Frede… - Journal of clinical …, 2016 - Springer
Purpose Gain-of-function (GOF) mutations in the signal transducer and activator of
transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune …
transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune …
Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT 1
B Carey, J Lambourne, S Porter, T Hodgson - Oral Diseases, 2019 - Wiley Online Library
Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary
immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial …
immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial …
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
FL van de Veerdonk, TS Plantinga… - … England Journal of …, 2011 - Mass Medical Soc
Background Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to
candida infection of skin, nails, and mucous membranes. Patients with recessive CMC and …
candida infection of skin, nails, and mucous membranes. Patients with recessive CMC and …
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis
Y Mizoguchi, M Tsumura, S Okada… - Journal of leukocyte …, 2014 - academic.oup.com
CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and
mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 …
mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 …
[HTML][HTML] Disseminated tuberculosis and chronic mucocutaneous candidiasis in a patient with a gain-of-function mutation in signal transduction and activator of …
S Pedraza-Sánchez, JL Lezana-Fernández… - Frontiers in …, 2017 - frontiersin.org
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 …
and viral infections, whereas gain-of-function (GOF) mutations in STAT1 are associated with …
相关搜索
- chronic lung disease
- chronic mucocutaneous candidiasis disease
- lung disease clinical heterogeneity
- mucocutaneous candidiasis mutations in stat1
- mucocutaneous candidiasis treatment options
- mucocutaneous candidiasis alleles in patients
- mucocutaneous candidiasis disseminated tuberculosis
- mucocutaneous candidiasis activator of transcription
- mucocutaneous candidiasis signal transduction
- combined immunodeficiencies mutations in stat1