[Background] Inherited chronic mucocutaneous candidiasis (CMC) is often caused by inborn errors of immunity, impairing the response to, or the production of IL-17A and IL-17F. About half of the cases carry STAT1 gain-of-function (GOF) mutations. Only few patients have been reported with mutations of TRAF3IP2, a gene encoding the adaptor ACT1 essential for IL-17 receptor(R) signaling. We investigated a 10-year-old girl with CMC, carrying a heterozygous variant of STAT1 and compound heterozygous variants of TRAF3IP2.[Methods] By flow cytometry, STAT1 levels and phosphorylation (CD14+) as well as IL-17A, IL-22, IFN-γ, and IL-4 production (memory CD4+ T cells) were determined. ACT1 expression and binding to IL-17RA were assessed by Western blot...
Chronic mucocutaneous candidiasis (CMCC) is characterized by noninvasive persistent Candida infectio...
International audiencePatients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chr...
SummaryPatients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chronic mucocutane...
Background: TRAF3 interacting protein 2 (TRAF3IP2) (Act1) is an adapter protein that interacts with ...
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F def...
Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candid...
Item does not contain fulltextBACKGROUND: Chronic mucocutaneous candidiasis (CMC) is characterized b...
Signal transducer and activator of transcription 3 (STAT3) triggered production of Th-17 cytokines m...
Contains fulltext : 97332.pdf (publisher's version ) (Open Access)We recently repo...
Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic mucocutaneous candid...
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency characterized by persistent or...
We recently reported the genetic cause of autosomal dominant chronic mucocutaneous candidiasis (AD-C...
Chronic mucocutaneous candidiasis (CMC) is seen in human patients with a variety of conditions and r...
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of...
Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of disorders characterized by non-...
Chronic mucocutaneous candidiasis (CMCC) is characterized by noninvasive persistent Candida infectio...
International audiencePatients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chr...
SummaryPatients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chronic mucocutane...
Background: TRAF3 interacting protein 2 (TRAF3IP2) (Act1) is an adapter protein that interacts with ...
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F def...
Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candid...
Item does not contain fulltextBACKGROUND: Chronic mucocutaneous candidiasis (CMC) is characterized b...
Signal transducer and activator of transcription 3 (STAT3) triggered production of Th-17 cytokines m...
Contains fulltext : 97332.pdf (publisher's version ) (Open Access)We recently repo...
Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic mucocutaneous candid...
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency characterized by persistent or...
We recently reported the genetic cause of autosomal dominant chronic mucocutaneous candidiasis (AD-C...
Chronic mucocutaneous candidiasis (CMC) is seen in human patients with a variety of conditions and r...
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of...
Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of disorders characterized by non-...
Chronic mucocutaneous candidiasis (CMCC) is characterized by noninvasive persistent Candida infectio...
International audiencePatients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chr...
SummaryPatients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chronic mucocutane...