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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
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Broader (1)

Candidiasis, Chronic Mucocutaneous

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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
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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
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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
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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
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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
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2005
2005
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea.
Introduction: Autosomal dominant chronic mucocutaneous candidiasis (CMC) without endo- crinopathy (OMIM 114580) is a well… Expand
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2005
2005
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea.
INTRODUCTION Autosomal dominant chronic mucocutaneous candidiasis (CMC) without endocrinopathy (OMIM 114580) is a well-described… Expand
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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
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Highly Cited
1987
Highly Cited
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
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1974
1974
TREATMENT OF MUCOCUTANEOUS CANDIDIASIS WITH TRANSFER FACTOR
 
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