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Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12
Autosomal dominant hyper-IgE syndrome
1 OMIM reference -
1 associated gene
38 signs/symptoms
Chronic mucocutaneous candidiasis
Autosomal dominant hyper-IgE syndrome

CARD9
(UniProt - OMIM)
 STAT3
(UniProt - OMIM)
CLEC7A
(UniProt - OMIM)
ICAM1
(UniProt - OMIM)
IL17F
(UniProt - OMIM)
IL17RA
(UniProt - OMIM)
STAT1
(UniProt - OMIM)
TRAF3IP2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.98)
STAT3


Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
Autosomal dominant hyper-IgE syndrome
STAT3



Chronic mucocutaneous candidiasis
Autosomal dominant hyper-IgE syndrome

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Synonym(s):
- AD-HIES
- Autosomal dominant HIES
- Autosomal dominant hyperimmunoglobulin E syndrome
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome
- Job syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cough
- Cutaneous rash
- Dysplastic / thick / grooved fingernails
- Fever / chilling
- Follicular / erythematous / edematous papules / milium
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Pruritus / itching
- Repeat respiratory infections

Chronic mucocutaneous candidiasis
Autosomal dominant hyper-IgE syndrome

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Dysplastic / thick / grooved toenails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Oral mucosa disease / cheilitis

Frequent
- Dyspareunia / coital pain / vaginal dryness
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anomalies of eyes and vision
- Enamel anomaly
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Recurrent urinary infections
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Atelectasia / pulmonary collapse
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity

Frequent
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Deepset eyes / enophthalmos
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Frontal bossing / prominent forehead
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Mutiple fractures / bone fragility
- Onyxis / paronyxis / ungual inflammation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis

Occasional
- Arterial aneurism (excluding aorta)
- Autosomal recessive inheritance
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Craniostenosis / craniosynostosis / sutural synostosis
- Lymphoma
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment