Susceptibility to Fungal Infections
Gene: AIREEnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 13 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
CMC is the most common infection occurring in APECED patients (77–100%), CMC is also the most common first clinical manifestation of APECED syndrome (40–93%)
Sources: LiteratureCreated: 25 Jul 2022, 12:16 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
- PMID: 30510552
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
- OMIM
- 607358
- Clinvar variants
- Variants in AIRE
- Penetrance
- None
- Publications
-
- PMID: 30510552
- Panels with this gene
-
- Disorders of immune dysregulation
- Calcium and Phosphate disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Susceptibility to Fungal Infections
- Mendeliome
- Familial hypoparathyroidism
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Renal Tubulopathies and related disorders
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aire has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aire has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Peter McNaughton (Queensland Children's Hospital)gene: AIRE was added gene: AIRE was added to Susceptibility to Fungal Infections. Sources: Literature Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AIRE were set to PMID: 30510552 Review for gene: AIRE was set to GREEN