Details of Disease

General Information of Disease (ID: DISPSGYF)

Disease Name Chronic mucocutaneous candidiasis
Synonyms CANDF; familial candidiasis; CMC; familial CMC; chronic mucocutaneous candidiasis; familial chronic mucocutaneous candidiasis; chronic mucocutaneous candidiasis (disease)
Disease Hierarchy
DISNGCMN: Inborn error of immunity
DISSCALK: Hereditary skin disorder
DISPSGYF: Chronic mucocutaneous candidiasis
Disease Identifiers
MONDO ID
MONDO_0015279
MESH ID
D002178
UMLS CUI
C0006845
MedGen ID
2426
HPO ID
HP:0002728
Orphanet ID
1334
SNOMED CT ID
234568006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IL17F TT2B6PS Limited Biomarker [1]
IL17F TT2B6PS Supportive Autosomal dominant [2]
STAT1 TTN7R6K Definitive Genetic Variation [3]
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This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DOCK8 OTNQLL21 Limited Genetic Variation [4]
CLEC7A OTRTBH27 Supportive Autosomal dominant [5]
IL17F OT9W9DE0 Supportive Autosomal dominant [2]
IL17RA OTVVI8ER Supportive Autosomal dominant [2]
IL17RC OTEFOBSS Supportive Autosomal dominant [6]
TRAF3IP2 OTLLZERL Supportive Autosomal dominant [7]
STAT2 OTO9G2RZ moderate Biomarker [8]
AIRE OTA7G1Y1 Strong Genetic Variation [9]
CARD9 OTJ81AWD Strong Genetic Variation [10]
IL12RB1 OTM1IJO2 Strong Biomarker [11]
NUDT11 OTFDXJA1 Strong Biomarker [12]
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⏷ Show the Full List of 11 DOT(s)

References

1 Autosomal dominant deficiency of the interleukin-17F in recurrent aphthous stomatitis: Possible novel mutation in a new entity.Gene. 2018 May 15;654:64-68. doi: 10.1016/j.gene.2018.02.041. Epub 2018 Feb 16.
2 Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011 Apr 1;332(6025):65-8. doi: 10.1126/science.1200439. Epub 2011 Feb 24.
3 STAT1 gain-of-function and chronic demodicosis.Pediatr Dermatol. 2020 Jan;37(1):153-155. doi: 10.1111/pde.14011. Epub 2019 Oct 21.
4 Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T(H)17cell differentiation.J Allergy Clin Immunol. 2016 Nov;138(5):1384-1394.e2. doi: 10.1016/j.jaci.2016.04.023. Epub 2016 May 24.
5 Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med. 2009 Oct 29;361(18):1760-7. doi: 10.1056/NEJMoa0901053.
6 Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015 May 4;212(5):619-31. doi: 10.1084/jem.20141065. Epub 2015 Apr 27.
7 An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 2013 Oct 17;39(4):676-86. doi: 10.1016/j.immuni.2013.09.002. Epub 2013 Oct 10.
8 IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies.Front Immunol. 2019 Jan 8;9:3047. doi: 10.3389/fimmu.2018.03047. eCollection 2018.
9 Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.Front Immunol. 2018 Nov 19;9:2570. doi: 10.3389/fimmu.2018.02570. eCollection 2018.
10 Oral Administration of Human Polyvalent IgG by Mouthwash as an Adjunctive Treatment of Chronic Oral Candidiasis.Front Immunol. 2018 Dec 21;9:2956. doi: 10.3389/fimmu.2018.02956. eCollection 2018.
11 Inherited IL-12R1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.Pediatrics. 2017 Nov;140(5):e20161668. doi: 10.1542/peds.2016-1668. Epub 2017 Oct 12.
12 A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.Immunogenetics. 2017 Oct;69(10):643-651. doi: 10.1007/s00251-017-0995-5. Epub 2017 May 24.