Skip to search formSkip to main contentSkip to account menu
You are currently offline. Some features of the site may not work correctly.

Candidiasis, Familial, 2

Known as: CARD9 IMMUNODEFICIENCY, Candidiasis, Familial Chronic Mucocutaneous, Familial chronic mucocutaneous candidiasis 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceCARD9, ARG373PROCARD9, GLY72SERChronic candidiasis
Expand

Broader (1)

Candidiasis, Chronic Mucocutaneous

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary immunodeficiency diseases characterised by… Expand
2018
2018
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
Background: Inherited CARD9 deficiency constitutes a primary immunodeficiency predisposing uniquely to chronic and invasive… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
2018
2018
Novel bi‐allelic splice mutations in CARD9 causing adult‐onset Candida endophthalmitis
CARD9 deficiency (CANDF2; OMIM# 212050) is an autosomal‐recessive monogenic inborn error of immunity conferring susceptibility to… Expand
2017
2017
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly… Expand
2015
2015
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
Gain-of-function STAT1 mutations have recently been associated with autosomal dominant chronic mucocutaneous candidiasis (CMC… Expand
2015
2015
Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation.
a Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Japan b Department of Pediatrics, Mie… Expand
  • figure 1
  • figure 2
Review
2006
Review
2006
Familial Chronic Mucocutaneous Candidiasis *
Chronic oral candidiasis has been described in association with abnormalities of the endocrine system on many occasions, both in… Expand
  • table I
  • figure 1
1999
1999
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis
Abstract We report on a patient who presented at 5 years of age with a hemiparesis due to a middle cerebral artery infarction. An… Expand
  • figure 1
Review
1994
Review
1994
Case Report: Familial Chronic Mucocutaneous Candidiasis Complicated by Deep Candida Infection
Chronic mucocutaneous candidiasis (CMC) is usually characterized by onset in childhood and is almost never complicated by deep… Expand
1987
1987
Head and neck findings in pediatric acquired immune deficiency syndrome
Since the initial reports of an immune deficiency syndrome affecting certain segments of the adult population (homosexual males… Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE