CMC
MCID: CHR063
MIFTS: 63

Chronic Mucocutaneous Candidiasis (CMC)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chronic Mucocutaneous Candidiasis

MalaCards integrated aliases for Chronic Mucocutaneous Candidiasis:

Name: Chronic Mucocutaneous Candidiasis 12 52 58 36 29 6 15
Candidiasis, Chronic Mucocutaneous 43 71
Familial Candidiasis 52 25
Cmc 52 58
Familial Chronic Mucocutaneous Candidiasis 25
Familiar Chronic Mucocutaneous Candidiasis 52
Candidiasis Chronic Mucocutaneous 54

Characteristics:

Orphanet epidemiological data:

58
chronic mucocutaneous candidiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


Summaries for Chronic Mucocutaneous Candidiasis

Genetics Home Reference : 25 Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis. Candida Candida is commonly present on the skin and on the mucous membranes, and in most people usually causes no health problems. However, certain medications (such as antibiotics and corticosteroids) and other factors can lead to occasional overgrowth of Candida (candidiasis) in the mouth (where it is known as thrush) or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before being cleared by a healthy immune system. Candida Candida Most people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections lead to a rash with crusty, thickened patches; when these patches occur on the scalp, they can cause loss of hair in the affected area (scarring alopecia). Candidiasis of the nails can result in thick, cracked, and discolored nails and swelling and redness of the surrounding skin. Thrush and gastrointestinal symptoms such as bloating, constipation, or diarrhea are common in affected individuals. Women with familial candidiasis can develop frequent vaginal yeast infections, and infants can have yeast infections on the skin that cause persistent diaper rash. Depending on the genetic change involved in this condition, some affected individuals are at risk for developing systemic candidiasis, a more severe condition in which the infection spreads through the bloodstream to various organs including the brain and the meninges, which are the membranes covering the brain and spinal cord. Systemic candidiasis can be life-threatening. Chronic or recurrent yeast infections can occur in people without familial candidiasis. Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body.

MalaCards based summary : Chronic Mucocutaneous Candidiasis, also known as candidiasis, chronic mucocutaneous, is related to candidiasis and oral candidiasis, and has symptoms including scaling of skin lesions, thickening of nails and swollen periungal tissue. An important gene associated with Chronic Mucocutaneous Candidiasis is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Phagosome. The drugs Amphotericin B and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, mucous membrane and nail due to t-cell defects, and related phenotypes are hyperkeratosis and skin rash

Disease Ontology : 12 A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located in skin, located in mucous membrane, or located in nail due to T-cell defects, has-agent Candida species and has symptom scaling of skin lesions, has symptom thickening of nails, has symptom swollen periungal tissue, and has symptom scarring of the scalp.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1334 Definition Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans . Visit the Orphanet disease page for more resources.

KEGG : 36 Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal recessive inheritance have been described. It has been reported that CMC is caused by mutations in components of a signaling pathway involving the cytokine interleukin-17.

Wikipedia : 74 Chronic mucocutaneous candidiasis is an immune disorder of T cells, it is characterized by chronic... more...

Related Diseases for Chronic Mucocutaneous Candidiasis

Diseases related to Chronic Mucocutaneous Candidiasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 465)
# Related Disease Score Top Affiliating Genes
1 candidiasis 32.1 TRAF3IP2 STAT3 STAT1 IL6 IL4 IL23A
2 oral candidiasis 31.9 STAT1 IL17RA IL17F IL17A CLEC7A AIRE
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.9 IL17A IL10 IFNG AIRE
4 thymoma 31.8 IL6 IL4 IL17A AIRE
5 autoimmune polyendocrine syndrome 31.7 IL23A IL22 IL17A IL10 AIRE
6 allergic hypersensitivity disease 31.7 IL4 IL17A IL10 IFNG
7 histoplasmosis 31.7 STAT1 IL17A IFNG CLEC7A
8 esophagitis 31.7 STAT3 IL6 IL4 IL10
9 cryptococcosis 31.5 IL4 IL17A IL10 IFNG CLEC7A
10 bacterial infectious disease 31.5 IL6 IL17A IL10 IFNG
11 alopecia areata 31.4 IL6 IL4 IL17A IL10 IFNG AIRE
12 autoimmune polyendocrine syndrome type 1 31.4 IL22 IL17RA IL17F IL17A CLEC7A AIRE
13 exanthem 31.4 IL6 IL10 IFNG
14 thyroiditis 31.4 IL6 IL4 IL10
15 lung disease 31.4 IL6 IL4 IL17A IL10 IFNG
16 lymphopenia 31.3 IL6 IL4 IL10 IFNG
17 blepharitis 31.3 STAT1 IL6 IL4
18 meningitis 31.3 IL6 IL4 IL17A IL10 IFNG
19 hyper ige syndrome 31.3 ZNF341 STAT3 IL6 IL4 IL17A IL10
20 tetanus 31.2 IL6 IL4 IL10 IFNG
21 dermatitis 31.2 STAT3 IL6 IL4 IL17A IL10 IFNG
22 arthritis 31.2 STAT3 IL6 IL4 IL23A IL17RA IL17A
23 autoimmune disease 31.1 STAT3 IL6 IL4 IL23R IL23A IL22
24 periodontitis 31.1 IL6 IL4 IL17A IL10 IFNG
25 lung abscess 31.1 STAT3 IL6 IFNG
26 dermatitis, atopic 31.1 STAT1 IL6 IL4 IL17D IL17A IL10
27 aplastic anemia 31.1 STAT3 IL6 IL4 IL23R IL10 IFNG
28 esophageal cancer 31.1 STAT3 STAT1 IL6 IL4 IL17A IL10
29 stomatitis 31.1 IL6 IL4 IL10 IFNG
30 systemic lupus erythematosus 31.1 STAT3 STAT1 IL6 IL4 IL23A IL17F
31 ige responsiveness, atopic 31.1 IL4 IL10 IFNG
32 cutaneous candidiasis 31.0 IL17RC IL17RA IL17F IL17A CLEC7A AIRE
33 autoimmune gastritis 31.0 IL6 IL4 IL10 IFNG AIRE
34 lepromatous leprosy 31.0 IL4 IL10 IFNG
35 myasthenia gravis 31.0 IL4 IL10 IFNG AIRE
36 autoimmune hepatitis 31.0 IL6 IL4 IL10 AIRE
37 lichen planus 31.0 IL6 IL4 IL17A IL10 IFNG
38 otitis media 31.0 IL6 IL4 IL17A IL10 IFNG
39 acute graft versus host disease 31.0 IL4 IL10 IFNG
40 hypereosinophilic syndrome 31.0 STAT3 IL4 IL10 IFNG
41 pneumonia 31.0 IL6 IL4 IL22 IL17A IL10 IFNG
42 hashimoto thyroiditis 31.0 IL6 IL4 IL17A IL10 IFNG AIRE
43 toxoplasmosis 31.0 STAT3 STAT1 IL6 IL4 IL10 IFNG
44 leprosy 3 30.9 IL6 IL4 IL23R IL17A IL10 IFNG
45 osteoporosis 30.9 STAT3 STAT1 IL6 IL4 IL17A IL10
46 diabetes mellitus, type i 30.9 IL6 IL4 IL17A IL10 IFNG AIRE
47 osteomyelitis 30.9 STAT1 IL6 IL4 IL10 IFNG
48 common variable immunodeficiency 30.9 STAT3 IL6 IL4 IL10 IFNG
49 severe combined immunodeficiency 30.9 IL6 IL4 IL17A IL10 IFNG
50 graft-versus-host disease 30.9 IL6 IL10 IFNG

Graphical network of the top 20 diseases related to Chronic Mucocutaneous Candidiasis:



Diseases related to Chronic Mucocutaneous Candidiasis

Symptoms & Phenotypes for Chronic Mucocutaneous Candidiasis

Human phenotypes related to Chronic Mucocutaneous Candidiasis:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
3 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
4 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
5 cheilitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100825
6 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
7 broad nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001821
8 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
9 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
10 dyspareunia 58 31 frequent (33%) Frequent (79-30%) HP:0030016
11 abnormal vagina morphology 31 frequent (33%) HP:0000142
12 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
13 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
14 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
15 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
16 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
17 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
18 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
19 abnormality of temperature regulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004370
20 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
21 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
22 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
23 seizure 31 occasional (7.5%) HP:0001250
24 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306
25 seizures 58 Occasional (29-5%)
26 abnormality of the nail 58 Very frequent (99-80%)
27 abnormality of the fingernails 58 Very frequent (99-80%)
28 abnormality of the endocardium 58 Occasional (29-5%)
29 abnormality of the immune system 58 Very frequent (99-80%)
30 abnormality of the eye 58 Occasional (29-5%)
31 abnormality of the mouth 58 Very frequent (99-80%)
32 abnormality of the lip 58 Very frequent (99-80%)
33 abnormality of the vagina 58 Frequent (79-30%)
34 abnormality of the skin 58 Very frequent (99-80%)
35 recurrent infections 58 Very frequent (99-80%)

Symptoms:

12
  • scaling of skin lesions
  • thickening of nails
  • swollen periungal tissue
  • scarring of the scalp

GenomeRNAi Phenotypes related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CLEC7A IL17A IL17D IL17RC IL23A STAT1

MGI Mouse Phenotypes related to Chronic Mucocutaneous Candidiasis:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.37 AIRE CLEC7A IFNG IL10 IL17A IL17F
2 homeostasis/metabolism MP:0005376 10.36 AIRE CLEC7A IFNG IL10 IL17A IL17RA
3 hematopoietic system MP:0005397 10.35 AIRE CLEC7A IFNG IL10 IL17A IL17F
4 immune system MP:0005387 10.34 AIRE CLEC7A IFNG IL10 IL17A IL17F
5 growth/size/body region MP:0005378 10.27 AIRE IFNG IL10 IL17A IL17F IL22
6 endocrine/exocrine gland MP:0005379 10.25 AIRE IFNG IL10 IL17A IL22 IL23R
7 integument MP:0010771 10.14 IFNG IL10 IL17A IL17RA IL22 IL23A
8 mortality/aging MP:0010768 10.13 AIRE CLEC7A IFNG IL10 IL17A IL17F
9 craniofacial MP:0005382 10.08 IFNG IL10 IL17A IL17F IL4 STAT3
10 liver/biliary system MP:0005370 9.97 AIRE IFNG IL10 IL22 IL4 IL6
11 neoplasm MP:0002006 9.96 AIRE IFNG IL10 IL17RA IL22 IL23A
12 no phenotypic analysis MP:0003012 9.81 AIRE IFNG IL10 IL17A IL17RA IL22
13 normal MP:0002873 9.61 AIRE IFNG IL10 IL17F IL17RC IL23A
14 respiratory system MP:0005388 9.44 AIRE CLEC7A IFNG IL10 IL17A IL17F

Drugs & Therapeutics for Chronic Mucocutaneous Candidiasis

Drugs for Chronic Mucocutaneous Candidiasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
2 Anti-Infective Agents Phase 2
3 Antiparasitic Agents Phase 2
4 Amebicides Phase 2
5 Antiprotozoal Agents Phase 2
6 Liposomal amphotericin B Phase 2
7 Autoantibodies Phase 2
8
Clotrimazole Approved, Vet_approved 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
10
Epinephrine Approved, Vet_approved 51-43-4 5816
11
Racepinephrine Approved 329-65-7 838
12 Antifungal Agents
13 Anti-Bacterial Agents
14 Tin Fluorides
15 Epinephryl borate
16 Antibiotics, Antitubercular

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-Label Study to Evaluate the Efficacy and Safety of SCY-078 (Ibrexafungerp) in Patients With Fungal Diseases That Are Refractory to or Intolerant of Standard Antifungal Treatment (FURI) Recruiting NCT03059992 Phase 3 Ibrexafungerp
2 A Phase 2a Efficacy, Safety, Tolerability, and PK Study of Encochleated Amphotericin B (CAMB/MAT2203) in Patients With Mucocutaneous Candidiasis Who Are Refractory or Intolerant to Standard Non-Intravenous Therapies Active, not recruiting NCT02629419 Phase 2 Amphotericin B
3 The Natural History, Immunologic Correlates and Genetic Defects in Patients With Mucocutaneous and Invasive Fungal Infections Recruiting NCT01386437
4 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
5 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056

Search NIH Clinical Center for Chronic Mucocutaneous Candidiasis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Fluconazole
Gentian Violet
Itraconazole
Ketoconazole
NYSTATIN PWDR
terbinafine
Terbinafine hydrochloride

Cochrane evidence based reviews: candidiasis, chronic mucocutaneous

Genetic Tests for Chronic Mucocutaneous Candidiasis

Genetic tests related to Chronic Mucocutaneous Candidiasis:

# Genetic test Affiliating Genes
1 Chronic Mucocutaneous Candidiasis 29

Anatomical Context for Chronic Mucocutaneous Candidiasis

The Foundational Model of Anatomy Ontology organs/tissues related to Chronic Mucocutaneous Candidiasis:

19
Skin, Mucous Membrane, Nail Due To T-Cell Defects

MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

40
Skin, T Cells, Brain, Spinal Cord, Neutrophil, Eye, Liver

Publications for Chronic Mucocutaneous Candidiasis

Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50) (show all 624)
# Title Authors PMID Year
1
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. 61 6
27930337 2016
2
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. 6 61
25918342 2015
3
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. 61 6
24120361 2013
4
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. 61 6
21350122 2011
5
Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity. 6
20807886 2010
6
Human dectin-1 deficiency and mucocutaneous fungal infections. 6
19864674 2009
7
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 54 61
20407228 2010
8
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. 61 54
18728167 2008
9
Novel homozygous AIRE mutation in a German patient with severe APECED. 61 54
19209622 2008
10
New perspectives on the immunology of chronic mucocutaneous candidiasis. 61 54
11964914 2002
11
Human inborn errors of immunity underlying superficial or invasive candidiasis. 61
32124012 2020
12
Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis. 61
32526033 2020
13
APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data from a Large Predominantly American Cohort. 61
32557834 2020
14
Autosomal dominant hyper IgE syndrome from a single centre in Chongqing, China (2009-2018). 61
32248557 2020
15
Biological and clinical significance of T helper 17 cell deficiency: insight into monogenic defects. 61
32549544 2020
16
An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency. 61
32448141 2020
17
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. 61
31588815 2020
18
Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice. 61
31867619 2020
19
Chronic mucocutaneous candidiasis: a rare diagnosis in paediatric dentistry. 61
32349899 2020
20
Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis. 61
32000109 2020
21
Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation. 61
32180118 2020
22
Molecular mechanism of azoles resistant Candida albicans in a patient with chronic mucocutaneous candidiasis. 61
32046674 2020
23
Persistence of Clonal Azole-Resistant Isolates of Candida albicans from a Patient with Chronic Mucocutaneous Candidiasis in Colombia. 61
32165797 2020
24
Erratum for Research Article "Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β" by J. Li, M. Ritelli, C. S. Ma, G. Rao, T. Habib, E. Corvilain, S. Bougarn, S. Cypowyj, L. Grodecká, R. Lévy, V. Béziat, L. Shang, K. Payne, D. T. Avery, M. Migaud, S. Boucherit, S. Boughorbel, A. Guennoun, M. Chrabieh, F. Rapaport, B. Bigio, Y. Itan, B. Boisson, V. Cormier-Daire, D. Syx, F. Malfait, N. Zoppi, L. Abel, T. Freiberger, H. C. Dietz, N. Marr, S. G. Tangye, M. Colombi, J.-L. Casanova, A. Puel. 61
31901076 2020
25
[Chronic mucocutaneous candidiasis with STAT1 gain-of-function mutation associated with herpes virus and mycobacterial infections]. 61
31677808 2020
26
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation. 61
32547544 2020
27
STAT1 gain-of-function and chronic demodicosis. 61
31637766 2020
28
A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1. 61
31905445 2019
29
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies. 61
31448411 2019
30
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. 61
31784499 2019
31
Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib. 61
31512162 2019
32
Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants. 61
31336247 2019
33
A Human STAT1 Gain-of-Function Mutation Impairs CD8+ T Cell Responses against Gammaherpesvirus 68. 61
31315996 2019
34
Vessel wall MRI revealing inflammation on brain aneurysm associated to chronic mucocutaneous candidiasis. 61
28992729 2019
35
Autoimmune Polyglandular Syndrome Type 1: a case report. 61
31420020 2019
36
Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2. 61
31292894 2019
37
Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined. 61
30801692 2019
38
Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. 61
30715640 2019
39
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. 61
29702748 2019
40
The Skin as a Window into Primary Immune Deficiency Diseases: Atopic Dermatitis and Chronic Mucocutaneous Candidiasis. 61
30832893 2019
41
Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation. 61
30543054 2019
42
Immunologic characterization of patients with chronic mucocutaneous candidiasis disease. 61
30656037 2019
43
Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation. 61
31068927 2019
44
Dysregulatory syndromes: the role of signal transducers and activators of transcription. 61
30407975 2018
45
HDAC inhibitors modulate innate immune responses to micro-organisms relevant to chronic mucocutaneous candidiasis. 61
30069986 2018
46
Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea. 61
30187709 2018
47
APECED in Turkey: A case report and insights on genetic and phenotypic variability. 61
30018023 2018
48
Chronic mucocutaneous candidiasis-more than just skin deep. 61
30100585 2018
49
VT-1598 inhibits the in vitro growth of mucosal Candida strains and protects against fluconazole-susceptible and -resistant oral candidiasis in IL-17 signalling-deficient mice. 61
29788070 2018
50
Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism? 61
29076381 2018

Variations for Chronic Mucocutaneous Candidiasis

ClinVar genetic disease variations for Chronic Mucocutaneous Candidiasis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val)SNV Pathogenic 30084 rs387906759 2:191859931-191859931 2:190995205-190995205
2 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln)SNV Pathogenic 30085 rs387906760 2:191859910-191859910 2:190995184-190995184

Expression for Chronic Mucocutaneous Candidiasis

Search GEO for disease gene expression data for Chronic Mucocutaneous Candidiasis.

Pathways for Chronic Mucocutaneous Candidiasis

Pathways related to Chronic Mucocutaneous Candidiasis according to KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621
2 Phagosome hsa04145
3 Cytokine-cytokine receptor interaction hsa04060
4 Chemokine signaling pathway hsa04062
5 Toll-like receptor signaling pathway hsa04620
6 JAK-STAT signaling pathway hsa04630

Pathways related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 STAT3 STAT1 IL6 IL4 IL23R IL23A
2
Show member pathways
13.85 STAT3 STAT1 IL6 IL4 IL23R IL23A
3
Show member pathways
13.66 STAT3 IL6 IL4 IL23R IL23A IL22
4
Show member pathways
13.56 STAT3 STAT1 IL6 IL4 IL23A IL22
5
Show member pathways
13.41 STAT3 STAT1 IL6 IL4 IL23R IL23A
6
Show member pathways
13.4 STAT3 STAT1 IL6 IL4 IL23R IL23A
7
Show member pathways
13.33 IL6 IL4 IL23R IL23A IL22 IL17RC
8 12.88 STAT3 STAT1 IL6 IL4 IL23R IL23A
9
Show member pathways
12.88 STAT1 IL6 IL4 IL22 IL17A IL10
10
Show member pathways
12.78 STAT3 STAT1 IL6 IL4 IL22
11
Show member pathways
12.68 STAT3 STAT1 IL6 IL23R IL23A IL17F
12
Show member pathways
12.65 STAT3 STAT1 IL6 IL4 IL17A IL10
13 12.61 STAT3 STAT1 IL4 IL17A IL10 IFNG
14
Show member pathways
12.5 STAT3 STAT1 IL6 IL4 IL23R IL23A
15
Show member pathways
12.36 TRAF3IP2 STAT3 IL6 IL4 IL17RC IL17RA
16
Show member pathways
12.31 STAT3 STAT1 IL4 IL10 IFNG
17
Show member pathways
12.31 STAT1 IL6 IL4 IL17A IL10 IFNG
18 12.29 STAT1 IL6 IL23A IL10 IFNG CLEC7A
19
Show member pathways
12.26 STAT1 IL6 IL23A IL17D IL10 CLEC7A
20 12.2 STAT3 STAT1 IL6 IFNG
21
Show member pathways
12.2 STAT1 IL6 IL4 IFNG
22
Show member pathways
12.1 STAT3 STAT1 IL4
23 12.02 IL6 IL4 IL10 IFNG
24
Show member pathways
12.01 STAT3 STAT1 IL4 IFNG
25
Show member pathways
12 STAT3 STAT1 IL6 IL23R IL17F IL17A
26 11.97 STAT3 STAT1 IL6 IL4 IL23R IL23A
27
Show member pathways
11.94 STAT3 STAT1 IL6 IL4 IL23R IL23A
28 11.92 IL6 IL23A IL17A IFNG
29 11.9 IL4 IL23R IL23A IL22 IL17A IL10
30
Show member pathways
11.86 STAT3 STAT1 IFNG
31 11.86 STAT1 IL6 IL4 IFNG
32 11.84 STAT1 IL6 IFNG
33
Show member pathways
11.82 STAT3 STAT1 IL6
34 11.8 IL6 IL23A IL17RA IL10 IFNG
35
Show member pathways
11.78 TRAF3IP2 STAT3 IL6 IL23R IL23A IL17RC
36 11.76 IL6 IL23A IL10
37
Show member pathways
11.66 STAT3 STAT1 IL6 IL4 IL23R IL23A
38 11.63 STAT3 STAT1 IFNG
39
Show member pathways
11.63 STAT3 STAT1 IL6
40 11.61 IL6 IL23A IFNG
41 11.58 STAT3 IL6 IL4 IL10
42 11.56 IL6 IL10 IFNG
43 11.53 STAT3 STAT1 IL6
44 11.51 IL4 IL10 IFNG
45 11.42 IL6 IL4 IL23A IL22 IL17A IFNG
46 11.41 IL6 IL10 IFNG
47 11.38 STAT3 IL6 IL10
48 11.34 IL6 IL4 IL10 IFNG
49 11.24 IL4 IL10 IFNG
50 11.05 IL6 IL4 IL23A IL22 IL17A IL10

GO Terms for Chronic Mucocutaneous Candidiasis

Cellular components related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 IL6 IL4 IL23A IL22 IL17RA IL17F
2 extracellular space GO:0005615 9.28 IL6 IL4 IL23A IL22 IL17F IL17D

Biological processes related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 STAT3 STAT1 IL6 IL4 IL23A IL17F
2 positive regulation of transcription, DNA-templated GO:0045893 10.11 ZNF341 STAT3 STAT1 IL6 IL4 IL10
3 positive regulation of gene expression GO:0010628 10.1 STAT3 IL6 IL4 IFNG CLEC7A
4 positive regulation of cell proliferation GO:0008284 10.09 STAT3 STAT1 IL6 IL4 IFNG CLEC7A
5 immune response GO:0006955 10.04 IL6 IL4 IL23A IL17A IL10 IFNG
6 defense response to virus GO:0051607 9.99 STAT1 IL6 IL23A IFNG
7 positive regulation of inflammatory response GO:0050729 9.9 IL23A IL17RA IFNG
8 defense response to Gram-negative bacterium GO:0050829 9.89 IL6 IL23R IL23A
9 response to glucocorticoid GO:0051384 9.87 IL6 IL22 IL10
10 cellular response to cytokine stimulus GO:0071345 9.86 STAT3 STAT1 IL17RA
11 positive regulation of T cell proliferation GO:0042102 9.86 IL6 IL4 IL23R IL23A
12 humoral immune response GO:0006959 9.85 TRAF3IP2 IL6 IFNG AIRE
13 inflammatory response GO:0006954 9.81 STAT3 IL6 IL23R IL23A IL22 IL17F
14 acute-phase response GO:0006953 9.8 STAT3 IL6 IL22
15 JAK-STAT cascade GO:0007259 9.78 STAT3 STAT1 IFNG
16 defense response to fungus GO:0050832 9.77 IL17RC IL17RA IL17A
17 positive regulation of interleukin-12 production GO:0032735 9.77 IL23R IL23A IFNG
18 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.76 IL17A IFNG CLEC7A
19 positive regulation of interleukin-6 secretion GO:2000778 9.76 IL17RC IL17F IL17A IFNG
20 interleukin-6-mediated signaling pathway GO:0070102 9.75 STAT3 STAT1 IL6
21 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 STAT3 IL6 IL4 IL23R IL23A IFNG
22 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.72 STAT1 IFNG
23 positive regulation of chemokine biosynthetic process GO:0045080 9.72 IL4 IFNG
24 positive regulation of defense response to virus by host GO:0002230 9.72 TRAF3IP2 STAT1 IL4 IL23R IL23A
25 interleukin-35-mediated signaling pathway GO:0070757 9.71 STAT3 STAT1
26 interleukin-27-mediated signaling pathway GO:0070106 9.71 STAT3 STAT1
27 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.71 IL4 IL10
28 positive regulation of osteoclast differentiation GO:0045672 9.71 IL23R IL23A IL17A IFNG
29 positive regulation of T-helper 1 type immune response GO:0002827 9.7 IL23R IL23A
30 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.7 IL17A IFNG
31 interleukin-9-mediated signaling pathway GO:0038113 9.7 STAT3 STAT1
32 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.7 IL23R IL23A IL17D
33 cytokine-mediated signaling pathway GO:0019221 9.7 STAT3 STAT1 IL6 IL4 IL23R IL23A
34 positive regulation of interleukin-12 biosynthetic process GO:0045084 9.69 IL17A CLEC7A
35 interleukin-21-mediated signaling pathway GO:0038114 9.69 STAT3 STAT1
36 positive regulation of natural killer cell proliferation GO:0032819 9.69 IL23R IL23A
37 positive regulation of MHC class II biosynthetic process GO:0045348 9.69 IL4 IL10 IFNG
38 positive regulation of T-helper 17 type immune response GO:2000318 9.68 IL23R IL23A
39 positive regulation of activation of Janus kinase activity GO:0010536 9.68 IL23R IL23A
40 T-helper 17 cell lineage commitment GO:0072540 9.67 STAT3 IL6
41 positive regulation of killing of cells of other organism GO:0051712 9.67 IFNG CLEC7A
42 positive regulation of memory T cell differentiation GO:0043382 9.67 IL23R IL23A
43 interleukin-17-mediated signaling pathway GO:0097400 9.67 IL17RC IL17RA IL17F IL17A
44 regulation of tyrosine phosphorylation of STAT protein GO:0042509 9.66 IL23R IL23A
45 type 2 immune response GO:0042092 9.66 IL4 IL10
46 positive regulation of cellular respiration GO:1901857 9.65 IL4 IFNG
47 neuroinflammatory response GO:0150076 9.65 IL4 IFNG
48 granulocyte chemotaxis GO:0071621 9.65 IL17RC IL17RA
49 interleukin-23-mediated signaling pathway GO:0038155 9.65 STAT3 IL23R IL23A
50 positive regulation of NK T cell activation GO:0051135 9.64 IL23R IL23A

Molecular functions related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.28 IL6 IL4 IL23A IL22 IL17F IL17D
2 CCR5 chemokine receptor binding GO:0031730 9.16 STAT3 STAT1
3 interleukin-17 receptor activity GO:0030368 8.96 IL17RC IL17RA

Sources for Chronic Mucocutaneous Candidiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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