Mutation in the AIRE Gene: Causes & Reasons

Possible Causes for Mutation in the AIRE Gene

Autoimmune Polyendocrine Syndrome Type 1

Discussion Since AIRE was first described as the APS-1 gene in 1997, more than a hundred different mutations of the AIRE gene have been identified in APS-1 patients, including [journals.plos.org]

Causes APS-1 is caused by mutations in the AIRE gene. To date, more than 60 mutations in the AIRE gene have been identified in people with APS-1. [rarediseases.org]

Diagnosis is suspected when there are at least two of these features, specially in young people. [2] [3] APS-1 is caused by variations ( mutations ) in the AIRE gene. [rarediseases.info.nih.gov]

Autoimmune Polyendocrine Syndrome

(AIRE) gene. [ncbi.nlm.nih.gov]

However, there has been no report documenting AIRE gene mutations in the Asian population. [ncbi.nlm.nih.gov]

We report the case of a female patient with a 967-979del13 mutation in the AIRE gene. [ncbi.nlm.nih.gov]

Bangstad Syndrome

Novel mutation of the AIRE gene in Iranian patients with autoimmune polyglandular syndrome type 1. [degruyter.com]

Autoimmune polyendocrinopathy syndrome 1 is an autosomal dominant or recessive disorder caused by mutations of the AIRE gene. [moldiag.com]

Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211 Cetani F et al, 2001, A novel mutation of the [AIRE] gene… acting in a dominant fashion and strongly cosegregating [genedx.com]

Atrophic Lichen Planus

APECED status was confirmed after identification of a mutation in the AIRE gene. [jomos.org]

Lymphangiectasis

Abstract Introduction APECED syndrome is a rare disease, with autosomal recessive transmission and associated with mutations of the AIRE gene. [link.springer.com]

Retinitis Pigmentosa 19

PMID: 35857223 AIRE gene mutation predisposing chronic mucocutaneous candidiasis and pigmented retinitis in two kids from a Chinese family. Ma Y, Wang X, Li R. [pubmed.ncbi.nlm.nih.gov]

Autoimmune Polyendocrine Syndrome Type 2

Causes APS-1 is caused by mutations in the AIRE gene. To date, more than 60 mutations in the AIRE gene have been identified in people with APS-1. [rarediseases.org]

It is an autosomal recessive disorder caused by mutations in the AIRE gene (autoimmune regulator gene) found on chromosome 21. [accessmedicine.mhmedical.com]

That means both parents must have a mutation of the AIRE gene for a child to be born with the disorder. [chop.edu]

Familial Candidiasis Type 4

[…] of the AIRE gene ). [dermnetnz.org]

[…] of the AIRE gene (autoimmune regulator). [scielo.br]

The largest association is CMC with autoimmune polyendocrinopathy type 1, due to mutations in the AIRE (autoimmune regulator) gene. [vgrd.org]

Immunodeficiency Type 31C

APS-1 (also known as Autoimmune-PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy or APECED) is a rare autosomal recessive disorder caused by mutation of the AIRE gene which [diapedia.org]

[…] of the AIRE gene ). [dermnetnz.org]

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. PLoS One. 2014. 9(7):e101616. [Medline]. [Full Text]. [emedicine.medscape.com]

Familial Candidiasis Type 2

Causes APS-1 is caused by mutations in the AIRE gene. To date, more than 60 mutations in the AIRE gene have been identified in people with APS-1. [rarediseases.org]

Our patient had no mutations in the AIRE gene so the presumptive diagnosis of APECED could not be confirmed. [medicaljournals.se]

[…] of the AIRE gene ). [dermnetnz.org]

Chronic Mucocutaneous Candidiasis

The genetic defect of one subgroup of CMC patients have been identified as mutations of the autoimmune regulator (AIRE) gene. [ncbi.nlm.nih.gov]

[…] of the AIRE gene ). [dermnetnz.org]

[…] of the AIRE gene (autoimmune regulator). [scielo.br]

Hereditary Neonatal Hyperparathyroidism

[…] in the AIRE gene and is autosomaly recessiveley inherited. [endobible.com]

The panel also includes diagnostics of autosomal recessive APECED syndrome, which is caused by mutations in the AIRE gene. [blueprintgenetics.com]

The disorder results from loss of function mutations of the autoimmune regulator gene (AIRE – chromosome 21q22.3) that is highly expressed in the thymus. [clinicaladvisor.com]

Progressive Muscular Atrophy

[…] in the AIRE (autoimmune regulator) gene. [ncbi.nlm.nih.gov]

Direct sequencing of the AIRE gene revealed a novel missense mutation at exon 1 (R15C), which was identified to be of maternal origin. [ncbi.nlm.nih.gov]

[…] ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations [ncbi.nlm.nih.gov]

Enteric Anendocrinosis

APECED mutations in the autoimmune regulator (AIRE) gene. Hum. Mutat 2001, 18, 205–211. [mdpi.com]

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. Clin. Genet 2009, 76, 431–440. [mdpi.com]

APS1 may be easily diagnosed searching for mutations in the autoimmune regulator (AIRE) gene encoding an autoimmune regulator (AIRE) protein [50,51]. [mdpi.com]

Polyendocrine - Polyneuropathy Syndrome

It is an autosomal recessive disorder caused by mutations in the AIRE gene (autoimmune regulator gene) found on chromosome 21. [accessmedicine.mhmedical.com]

Autoimmune polyendocrine syndrome type 1 (APS-1) 13. pathogenesis • More than 70 different mutations in the AIRE gene have now been reported. • mutations can be confirmed [slideshare.net]

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. [emedicine.medscape.com]

46,XX Ovotesticular Disorder of Sex Development

In addition, secondary ovarian hypoplasia has been described in association with infectious agents (HIV) or autoimmunity (APECED syndrome associated with AIRE gene mutations [orpha.net]

Syndromic Diarrhea

[…] of the AIRE gene Polygenic Polygenic Glands affected Common Parathyroid Adrenals Gonads Adrenals Thyroid Pancreas Thyroid Pancreas Less common Pancreas Thyroid Gonads Variable [msdmanuals.com]

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy results from mutations in the AIRE gene, which modulates transcription of peripheral self-antigens in the thymus [materials.uscap.org]

[…] types May influence the development of specific components of the disorder Primarily, B8, DW3, DR3, DR4 Others in specific disorders DR3, DR4 Inheritance Autosomal recessive mutation [msdmanuals.com]

Hypothyroidism

A subset of patients with this disease also have a high prevalence of autoimmune thyroiditis and hypothyroidism and a novel mutation in the AIRE gene that is inherited in [emedicine.medscape.com]

It is inherited in an autosomal recessive manner. [17] Autoimmune polyendocrinopathy type I is caused by a mutation in the AIRE gene and is characterized by the presence of [emedicine.medscape.com]

Autoimmune Hypoparathyroidism

[…] in the AIRE gene) were ruled out as the disease develops within the first two decades associated to candidiasis and Addison’s disease. 4 APS Type II and X-linked polyendocrinopathy [academic.oup.com]

In APS1, a monogenic disease caused by mutations in the AIRE (autoimmune regulator) gene, autoantibodies against parathyroid-expressed targets including the calcium-sensing [link.springer.com]

This gene, defined as AIRE (autoimmune regulator), has recently been isolated and cloned [ [ 36 ], [ 51 ] ]. Five main mutations have been identified. [em-consulte.com]

Omenn Syndrome

Mutations in the recently cloned AIRE-1 gene[ 1 Finnish–German APECED Consortium (1997) Nat. [cell.com]

Diabetic Enteropathy

APS-1 and IPEX are single gene disorders arising from mutations of the AIRE (autoimmune regulator) gene and FOXP3 (forkhead box P3) gene respectively; APS-2 is polygenic. [diapedia.org]

[…] dystrophy (APECED) syndrome, caused by mutations in the AIRE gene, frequently cause AIE. [analesdepediatria.org]

[…] leading to impaired function / number of regulatory T cells, X linked APECED syndrome: AIRE mutation resulting in lack of suppression of autoreactive T cells, autosomal recessive [pathologyoutlines.com]

Chronic Fibrous Thyroiditis

Childhood-onset type 1 autoimmune polyendocrine syndrome has autosomal recessive transmission linked to a mutation of the AIRE gene, which controls the production of antibodies [em-consulte.com]

Addison Disease

Six different AIRE gene mutations were detected and p.R257X mutation was present in 63.3 % of pathological alleles. [ncbi.nlm.nih.gov]

Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. [web.archive.org]

Hypergonadotropic Hypogonadism-Cataract Syndrome

The postulated genetic locus is described in Pathophysiology, with most notably being mutation of the AIRE gene. [emedicine.medscape.com]

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. [emedicine.medscape.com]

Immunodeficiency due to Defective Expression of HLA Class 1

Mutations in the AIRE gene (this gene is involved in the expression of thymic self-antigens) can lead to autoimmune polyglandular syndrome – whereby patients develop a number [lecturio.com]

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genet. 17, 399–403 (1997). 35. Su, M. [doi.org]

Therefore, mutations in genes causing expression of self-antigens in the thymus can lead to autoimmune conditions. [lecturio.com]

Ulna Metaphyseal Dysplasia Syndrome

Immunol Lett 80 : 195 – 198 11 2001 APECED mutations in the autoimmune regulator (AIRE) gene. [academic.oup.com]

REgulator gene (AIRE) ( 1 ). [academic.oup.com]

Mutational analysis Blood samples for mutational analysis of the AIRE gene were obtained after informed consent was obtained from patient 1, her parents, her affected brothers [academic.oup.com]

46,XX Ovarian Dysgenesis-Short Stature Syndrome

In addition, secondary ovarian hypoplasia has been described in association with infectious agents (HIV) or autoimmunity (APECED syndrome associated with AIRE gene mutations [orpha.net]

Pseudohypoparathyroidism Type 1C

[…] in the AIRE gene and is autosomaly recessiveley inherited. [endobible.com]

1 typically presents in childhood, with skin infections (mucocutaneous candidiasis) then HPTH in 80% patients, and Addison's disease usually by age 25. 5hus is caused by mutations [endobible.com]

Pituitary Dwarfism

Abstract Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease due to mutations in the AIRE (AutoImmune REgulator) gene [ncbi.nlm.nih.gov]

Abstract Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. [ncbi.nlm.nih.gov]

Autoimmune Ovarian Failure

APS1 has no HLA association and is caused by mutations in the AIRE gene which codes for a putative transcription regulator. [endocrineonline.org]

[…] in AIRE gene); • Infections ( e.g. herpes zoster, cytomegalovirus); • Chromosome X defects: ■ Turner syndrome ■ Fragile X syndrome ( FMR1 gene premutation) • Monogenic defects [ojrd.biomedcentral.com]

gene mutation. [unipa.it]