CMC
MCID: CHR063
MIFTS: 67

Chronic Mucocutaneous Candidiasis (CMC)

Categories: Blood diseases, Infectious diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chronic Mucocutaneous Candidiasis

MalaCards integrated aliases for Chronic Mucocutaneous Candidiasis:

Name: Chronic Mucocutaneous Candidiasis 12 53 59 37 29 15
Candidiasis, Chronic Mucocutaneous 44 73
Cmc 53 59
Candidiasis Chronic Mucocutaneous 55

Characteristics:

Orphanet epidemiological data:

59
chronic mucocutaneous candidiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:



Summaries for Chronic Mucocutaneous Candidiasis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1334Disease definitionChronic 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.

MalaCards based summary : Chronic Mucocutaneous Candidiasis, also known as candidiasis, chronic mucocutaneous, is related to familial candidiasis and candidiasis, familial, 2, and has symptoms including scaling of skin lesions, thickening of nails and swollen periungal tissue. An important gene associated with Chronic Mucocutaneous Candidiasis is IL17F (Interleukin 17F), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Phagosome. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and eye, and related phenotypes are seizures and recurrent respiratory infections

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.

Wikipedia : 76 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 266)
# Related Disease Score Top Affiliating Genes
1 familial candidiasis 33.5 CARD9 IL17F IL17RA
2 candidiasis, familial, 2 33.4 CARD9 CLEC7A
3 candidiasis 30.9 AIRE CARD9 CLEC7A IFNG IL10 IL17A
4 autoimmune polyendocrine syndrome 30.5 AIRE IL17A IL22
5 joint disorders 30.2 IL17A IL6 TNF
6 lung disease 30.1 IL10 IL17A IL6 TNF
7 meningitis 30.1 IFNG IL10 IL6 TNF
8 aplastic anemia 30.1 IFNG IL6 STAT3 TNF
9 myasthenia gravis 30.0 AIRE IFNG IL10 TNF
10 alopecia areata 29.9 AIRE IFNG IL17A IL2RA PTPN22 TNF
11 osteomyelitis 29.8 IFNG IL10 IL6 TNF
12 systemic lupus erythematosus 29.5 IFNG IL10 IL17A IL2RA IL6 PTPN22
13 arthritis 29.4 IFNG IL10 IL17A IL6 PTPN22 TNF
14 candidiasis, familial, 4 11.9
15 immunodeficiency 51 11.9
16 immunodeficiency 31c 11.9
17 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.7
18 autoimmune polyendocrine syndrome type 1 11.6
19 candidiasis, familial, 1 11.4
20 candidiasis, familial, 6 11.4
21 candidiasis, familial, 8 11.3
22 capillary malformations, congenital 11.2
23 chudley-mccullough syndrome 11.2
24 thymoma 10.5
25 palladium allergic contact dermatitis 10.3 IL10 IL17A
26 cephalosporin allergy 10.3 IFNG IL10
27 eye lymphoma 10.3 IL10 IL6
28 acute transverse myelitis 10.3 IL10 IL6
29 dermatophytosis 10.3
30 allergic asthma 10.2 IFNG IL10 IL17A
31 mixed lacrimal gland cancer 10.2 IL6 STAT3
32 acute generalized exanthematous pustulosis 10.2 IL17A IL17F IL22
33 autoimmune myocarditis 10.2 IFNG TNF
34 staphylococcal toxic shock syndrome 10.2 IFNG TNF
35 alopecia 10.2
36 intracranial aneurysm 10.2
37 hypothyroidism 10.2
38 histoplasmosis 10.2
39 lupus erythematosus 10.2
40 tungiasis 10.2 IL10 TNF
41 microscopic polyangiitis 10.2 IL10 TNF
42 multifocal choroiditis 10.2 IL10 TNF
43 tetanus 10.2 IFNG IL10 IL2RA
44 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 IL6 TNF
45 critical limb ischemia 10.2 IL6 TNF
46 leukomalacia 10.2 IL6 TNF
47 streptococcal toxic-shock syndrome 10.2 IL6 TNF
48 hyperlucent lung 10.2 IFNG IL10 IL2RA
49 polyradiculoneuropathy 10.2 IFNG IL10 IL17A
50 paranasal sinus disease 10.2 IFNG IL10 IL17A

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



Diseases related to Chronic Mucocutaneous Candidiasis

Symptoms & Phenotypes for Chronic Mucocutaneous Candidiasis

Symptoms:

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

Human phenotypes related to Chronic Mucocutaneous Candidiasis:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
3 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
4 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
5 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
6 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
7 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
8 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
9 abnormality of temperature regulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004370
10 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
11 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
12 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
13 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
14 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
15 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
16 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
17 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
18 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
19 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
20 abnormal toenail morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0008388
21 dyspareunia 59 32 frequent (33%) Frequent (79-30%) HP:0030016
22 broad nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001821
23 abnormality of the eye 59 Occasional (29-5%)
24 abnormality of the nail 59 Very frequent (99-80%)
25 abnormality of the endocardium 59 Occasional (29-5%)
26 abnormality of the mouth 59 Very frequent (99-80%)
27 abnormality of the immune system 59 Very frequent (99-80%)
28 recurrent infections 59 Very frequent (99-80%)
29 abnormality of the vagina 59 Frequent (79-30%)
30 abnormality of the lip 59 Very frequent (99-80%)
31 abnormality of the skin 59 Very frequent (99-80%)
32 abnormal vagina morphology 32 frequent (33%) HP:0000142
33 abnormal endocardium morphology 32 occasional (7.5%) HP:0004306

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

26 (show top 50) (show all 60)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.54 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.54 TRAF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.54 IL10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.54 IL2RA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.54 IL2RA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.54 CARD9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.54 IL10
8 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.54 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.54 IL2RA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.54 IL10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.54 CARD9 IL2RA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.54 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.54 IL10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.54 TRAF3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.54 IL2RA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.54 IL2RA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.54 TRAF3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.54 CARD9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.54 IL2RA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.54 IL2RA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.54 TRAF3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.54 IL10 TRAF3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.54 IL2RA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.54 IL2RA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.54 IL10 TRAF3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.54 CARD9 IL10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.54 CARD9 IL10 IL2RA TRAF3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.54 CARD9
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.54 CARD9
30 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.54 IL2RA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.54 IL2RA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.54 IL10 IL2RA TRAF3
33 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.54 IL10 IL2RA TRAF3
34 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.54 IL10
35 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.54 IL10
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.54 IL10
37 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.54 IL2RA
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.35 IL2RA
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 10.35 CLEC7A TRAF3
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.35 CLEC7A
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.35 CLEC7A
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.35 IL2RA
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.35 CLEC7A
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.35 CLEC7A
45 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 10.35 TRAF3
46 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.35 TRAF3
47 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.35 IL10
48 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.35 CLEC7A IL10 IL2RA TRAF3
49 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.35 IL2RA
50 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.35 CLEC7A

MGI Mouse Phenotypes related to Chronic Mucocutaneous Candidiasis:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.45 AIRE CARD9 CLEC7A IFNG IL10 IL17A
2 homeostasis/metabolism MP:0005376 10.43 AIRE CARD9 CLEC7A IFNG IL10 IL17A
3 immune system MP:0005387 10.43 AIRE CARD9 CLEC7A IFNG IL10 IL17A
4 digestive/alimentary MP:0005381 10.41 AIRE CLEC7A IFNG IL10 IL17A IL17F
5 growth/size/body region MP:0005378 10.36 AIRE IFNG IL10 IL17A IL17F IL23R
6 endocrine/exocrine gland MP:0005379 10.34 AIRE IFNG IL10 IL17A IL23R IL2RA
7 mortality/aging MP:0010768 10.24 AIRE CLEC7A IFNG IL10 IL17A IL17F
8 craniofacial MP:0005382 10.09 IFNG IL10 IL17A IL17F STAT3 TNF
9 liver/biliary system MP:0005370 10.06 AIRE IFNG IL10 IL6 PTPN22 STAT1
10 integument MP:0010771 10.03 IFNG IL10 IL17RA IL6 STAT1 STAT3
11 neoplasm MP:0002006 10.02 AIRE IFNG IL10 IL17RA IL23A IL23R
12 no phenotypic analysis MP:0003012 9.91 AIRE IFNG IL10 IL17A IL17RA IL23A
13 respiratory system MP:0005388 9.77 AIRE CLEC7A IFNG IL10 IL17A IL17F
14 renal/urinary system MP:0005367 9.7 IFNG IL17A IL6 PTPN22 STAT3 TRAF3
15 vision/eye MP:0005391 9.28 AIRE IFNG IL10 IL2RA IL6 STAT1

Drugs & Therapeutics for Chronic Mucocutaneous Candidiasis

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2 Antifungal Agents Phase 3,Phase 2
3
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
4 Liposomal amphotericin B Phase 2
5 Anti-Infective Agents Phase 2
6 Antiparasitic Agents Phase 2
7 Autoantibodies Phase 2,Phase 1
8 Anti-Bacterial Agents Phase 2
9 Antiprotozoal Agents Phase 2
10
rituximab Approved Phase 1 174722-31-7 10201696
11 Immunoglobulins Phase 1
12 Antibodies Phase 1
13 Antibodies, Monoclonal Phase 1
14 Antirheumatic Agents Phase 1
15 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-Label Study to Evaluate Efficacy and Safety of SCY-078 in Patients With Refractory or Intolerant Fungal Diseases Recruiting NCT03059992 Phase 3 SCY-078
2 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
3 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab/Rituxan
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 73 / NDF-RT 51 :


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

MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

41
Skin, T Cells, Eye, Lung, Bone, Thyroid, Monocytes

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

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

Publications for Chronic Mucocutaneous Candidiasis

Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50) (show all 274)
# Title Authors Year
1
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. ( 29702748 )
2018
2
Chronic mucocutaneous candidiasis, a case study and literature review. ( 29500032 )
2018
3
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation. ( 29934865 )
2018
4
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. ( 30510552 )
2018
5
HDAC inhibitors modulate innate immune responses to micro-organisms relevant to chronic mucocutaneous candidiasis. ( 30069986 )
2018
6
Chronic mucocutaneous candidiasis-more than just skin deep. ( 30100585 )
2018
7
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation. ( 28348565 )
2017
8
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. ( 28597685 )
2017
9
Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism? ( 29076381 )
2017
10
CMCD: Chronic Mucocutaneous Candidiasis Disease. ( 28603201 )
2017
11
Vessel wall MRI revealing inflammation on brain aneurysm associated to chronic mucocutaneous candidiasis. ( 28992729 )
2017
12
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. ( 27808400 )
2017
13
Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1. ( 29270166 )
2017
14
Gain-of-Function Mutations in<i>STAT1</i>: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. ( 29259832 )
2017
15
Chronic Mucocutaneous Candidiasis. ( 28065688 )
2017
16
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
17
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. ( 26604104 )
2016
18
Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility. ( 26621323 )
2016
19
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. ( 26948078 )
2016
20
Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease. ( 26981552 )
2016
21
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease. ( 26732859 )
2016
22
Treatment options for chronic mucocutaneous candidiasis. ( 27161991 )
2016
23
Chronic mucocutaneous candidiasis presenting as Candida endophthalmitis. ( 27085277 )
2016
24
Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation. ( 26787170 )
2016
25
Clonal Strain Persistence of Candida albicans Isolates from Chronic Mucocutaneous Candidiasis Patients. ( 26849050 )
2016
26
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. ( 28090315 )
2016
27
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-I^-mediated responses in chronic mucocutaneous candidiasis. ( 26514428 )
2015
28
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. ( 25662309 )
2015
29
Immunotherapy with G-CSF in patients with chronic mucocutaneous candidiasis. ( 25999307 )
2015
30
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. ( 26494717 )
2015
31
Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation. ( 26080282 )
2015
32
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). ( 26255980 )
2015
33
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. ( 25918342 )
2015
34
Altered immune responses in patients with chronic mucocutaneous candidiasis. ( 24582143 )
2014
35
Two Novel Gain-of-Function Mutations of STAT1 Responsible for Chronic Mucocutaneous Candidiasis Disease: Impaired Production of IL-17A and IL-22, and the Presence of Anti-IL-17F Autoantibody. ( 25288569 )
2014
36
Chronic mucocutaneous candidiasis: a case with exuberant cutaneous horns in nipples. ( 25054753 )
2014
37
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. ( 25042743 )
2014
38
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. ( 24343863 )
2013
39
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. ( 24240291 )
2013
40
IL-17 T Cells' Defective Differentiation In Vitro Despite Normal Range Ex Vivo in Chronic Mucocutaneous Candidiasis Due to STAT1 Mutation. ( 24335902 )
2013
41
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
42
Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. ( 23791509 )
2013
43
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. ( 23709754 )
2013
44
Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3. ( 23541088 )
2013
45
Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis? ( 21988702 )
2012
46
Fungal granuloma of the brain in a case of chronic mucocutaneous candidiasis. ( 22724885 )
2012
47
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. ( 22730530 )
2012
48
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. ( 23026768 )
2012
49
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. ( 22847544 )
2012
50
Photo quiz. A 32-year-old man with ulcerative mucositis, skin lesions, and nail dystrophy. Chronic mucocutaneous candidiasis by multidrug-resistant Candida albicans. ( 22403094 )
2012

Variations for Chronic Mucocutaneous Candidiasis

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:

37
# 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 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 CARD9 CLEC7A IFNG IL10 IL17A IL17F
2
Show member pathways
13.92 IL10 IL17A IL17RA IL17RC IL22 IL23A
3
Show member pathways
13.75 IFNG IL10 IL17A IL17F IL17RA IL17RC
4
Show member pathways
13.62 IFNG IL10 IL17A IL17RC IL22 IL23A
5
Show member pathways
13.51 IL10 IL17A IL17RA IL17RC IL22 IL23A
6
Show member pathways
13.4 IL10 IL17A IL17RA IL17RC IL22 IL23A
7
Show member pathways
13.35 IFNG IL10 IL17A IL17F IL17RA IL17RC
8
Show member pathways
13.09 CARD9 IFNG IL10 IL6 STAT1 TNF
9
Show member pathways
12.97 IFNG IL10 IL17A IL22 IL2RA IL6
10 12.93 IFNG IL23A IL23R IL2RA IL6 STAT1
11
Show member pathways
12.89 IFNG IL2RA IL6 STAT1 STAT3 TNF
12
Show member pathways
12.85 IL22 IL2RA IL6 STAT1 STAT3 TNF
13
Show member pathways
12.76 IFNG STAT1 STAT3 TNF TRAF3 TRAF3IP2
14
Show member pathways
12.69 IFNG IL10 IL17A IL17F IL23A IL23R
15 12.65 CARD9 IFNG IL10 IL17A IL2RA PTPN22
16
Show member pathways
12.54 IFNG IL10 IL22 IL23A IL23R IL2RA
17
Show member pathways
12.51 IFNG IL10 IL17A IL6 TNF
18
Show member pathways
12.47 IFNG IL10 IL17A IL17F IL22 IL23A
19 12.39 IL6 STAT1 STAT3 TNF TRAF3
20 12.39 CARD9 CLEC7A IFNG IL10 IL23A IL6
21
Show member pathways
12.36 IFNG IL10 IL17A IL2RA IL6 STAT1
22
Show member pathways
12.36 CARD9 CLEC7A IL10 IL23A IL6 STAT1
23
Show member pathways
12.35 IFNG IL6 STAT1 STAT3
24
Show member pathways
12.35 IFNG IL10 STAT1 STAT3 TNF
25
Show member pathways
12.35 IFNG IL17A IL17F IL17RA IL17RC IL6
26
Show member pathways
12.34 IFNG IL6 STAT1 TNF
27 12.29 IFNG IL6 STAT1 STAT3 TNF
28
Show member pathways
12.27 IFNG STAT1 STAT3 TNF
29
Show member pathways
12.24 IFNG IL6 STAT1 TNF
30
Show member pathways
12.19 IFNG IL10 IL17A IL17RC IL22 IL23A
31
Show member pathways
12.15 IFNG IL2RA STAT1 STAT3
32 12.14 IL6 STAT1 STAT3 TNF
33 12.13 STAT1 STAT3 TNF TRAF3
34 12.11 IFNG IL10 IL2RA IL6 TNF
35
Show member pathways
12.06 IFNG IL2RA STAT1 STAT3
36 12.04 IFNG IL10 IL23R IL2RA IL6 STAT1
37 11.99 IL6 STAT1 STAT3 TNF
38 11.98 IFNG IL10 IL6 TNF
39 11.98 IFNG IL17A IL23A IL6 TNF
40 11.97 IL10 IL17A IL17F IL23A IL23R IL6
41 11.91 IFNG IL10 IL17RA IL23A IL6 TNF
42 11.91 IFNG IL10 IL17A IL22 IL23A IL23R
43 11.89 IFNG IL10 IL17A IL23A IL6 TNF
44 11.86 IL10 IL23A IL6 TNF
45
Show member pathways
11.85 IL6 STAT1 STAT3
46 11.83 IFNG IL6 STAT1
47
Show member pathways
11.81 IFNG IL10 IL17A IL17F IL22 IL23A
48
Show member pathways
11.8 IFNG IL2RA TNF
49 11.73 IFNG STAT1 STAT3 TNF
50
Show member pathways
11.71 IFNG IL6 TNF

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 space GO:0005615 9.56 IFNG IL10 IL17A IL17F IL22 IL23A
2 extracellular region GO:0005576 9.28 IFNG IL10 IL17A IL17F IL17RA IL22

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

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.97 CARD9 IFNG IL23A IL6 STAT1
2 response to organic substance GO:0010033 9.91 IL10 STAT3 TNF
3 defense response to Gram-negative bacterium GO:0050829 9.9 IL23A IL23R IL6
4 positive regulation of inflammatory response GO:0050729 9.89 IL17RA IL23A TNF
5 cellular response to organic cyclic compound GO:0071407 9.89 STAT1 STAT3 TNF
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.88 STAT1 TNF TRAF3
7 positive regulation of interleukin-6 production GO:0032755 9.87 CARD9 IL6 TNF
8 response to glucocorticoid GO:0051384 9.87 IL10 IL22 IL6 TNF
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.86 IL6 STAT1 TNF
10 cellular response to cytokine stimulus GO:0071345 9.86 IL17RA STAT1 STAT3
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 IFNG IL23A IL23R IL6 STAT3
12 positive regulation of T cell proliferation GO:0042102 9.84 IL23A IL23R IL2RA IL6
13 positive regulation of interferon-gamma production GO:0032729 9.83 IL23A IL23R TNF
14 acute-phase response GO:0006953 9.82 IL22 IL6 STAT3
15 defense response to fungus GO:0050832 9.79 IL17A IL17RA IL17RC
16 positive regulation of activated T cell proliferation GO:0042104 9.79 IL23A IL23R IL2RA
17 positive regulation of defense response to virus by host GO:0002230 9.78 IL23A IL23R STAT1 TRAF3IP2
18 positive regulation of interleukin-12 production GO:0032735 9.77 IFNG IL23A IL23R
19 humoral immune response GO:0006959 9.77 AIRE IFNG IL6 TNF TRAF3IP2
20 positive regulation of interleukin-6 secretion GO:2000778 9.76 IL17A IL17F IL17RC
21 negative regulation of interleukin-10 production GO:0032693 9.73 IL23A IL23R
22 positive regulation of interleukin-17 production GO:0032740 9.73 IL23A IL23R
23 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.73 IFNG STAT1
24 interleukin-6-mediated signaling pathway GO:0070102 9.73 IL6 STAT1 STAT3
25 interleukin-27-mediated signaling pathway GO:0070106 9.72 STAT1 STAT3
26 interleukin-35-mediated signaling pathway GO:0070757 9.72 STAT1 STAT3
27 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.72 IL23A IL23R
28 positive regulation of T-helper 1 type immune response GO:0002827 9.72 IL23A IL23R
29 interleukin-9-mediated signaling pathway GO:0038113 9.71 STAT1 STAT3
30 negative regulation of lipid storage GO:0010888 9.71 IL6 TNF
31 endothelial cell apoptotic process GO:0072577 9.71 IL10 TNF
32 interleukin-21-mediated signaling pathway GO:0038114 9.7 STAT1 STAT3
33 positive regulation of activation of Janus kinase activity GO:0010536 9.7 IL23A IL23R
34 positive regulation of natural killer cell proliferation GO:0032819 9.69 IL23A IL23R
35 positive regulation of T-helper 17 type immune response GO:2000318 9.69 IL23A IL23R
36 response to peptidoglycan GO:0032494 9.69 CARD9 IL6
37 interleukin-23-mediated signaling pathway GO:0038155 9.69 IL23A IL23R STAT3
38 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 IL10 TNF
39 positive regulation of memory T cell differentiation GO:0043382 9.68 IL23A IL23R
40 positive regulation of neuroinflammatory response GO:0150078 9.67 IL6 TNF
41 positive regulation of NK T cell activation GO:0051135 9.67 IL23A IL23R
42 regulation of tyrosine phosphorylation of STAT protein GO:0042509 9.67 IL23A IL23R
43 positive regulation of interleukin-23 production GO:0032747 9.67 IFNG IL17A IL17RA
44 T-helper 17 cell lineage commitment GO:0072540 9.66 IL6 STAT3
45 granulocyte chemotaxis GO:0071621 9.66 IL17RA IL17RC
46 positive regulation of T-helper 17 cell lineage commitment GO:2000330 9.65 IL23A IL23R
47 inflammatory response GO:0006954 9.65 CLEC7A IL10 IL17A IL17F IL22 IL23A
48 fibroblast activation GO:0072537 9.64 IL17A IL17RA
49 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.63 IFNG TNF
50 receptor biosynthetic process GO:0032800 9.63 IL10 TNF

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 AIRE CARD9 CLEC7A IFNG IL10 IL17A
2 tumor necrosis factor receptor binding GO:0005164 9.33 STAT1 TNF TRAF3
3 CCR5 chemokine receptor binding GO:0031730 9.32 STAT1 STAT3
4 interleukin-17 receptor activity GO:0030368 9.26 IL17RA IL17RC
5 cytokine activity GO:0005125 9.23 IFNG IL10 IL17A IL17F IL22 IL23A

Sources for Chronic Mucocutaneous Candidiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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