AIRE - autoimmune regulator Gene

Also Known as APS1; APSI; PGA1; AIRE1; APECED

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 326

About AIRE

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:44,285,876-44,298,648 (from NCBI)

This gene has 5 transcripts (splice variants), 175 orthologues, 5 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]

AIRE Products (1)

mRNA Protein Name
NM_000383.4 NP_000374.1 autoimmune regulator
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
11533054 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
18292755 GOA
enables histone binding IDA
IDA: Inferred from direct assay
18292755 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15712268 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
19446523 GOA
Biological Process GO Annotation Evidence References Source
involved in central tolerance induction to self antigen IMP
IMP: Inferred from mutant phenotype
26084028 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
18292755 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
26084028 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
11274163 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
18292755 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AIRE Protein Structure

HSR

HSR: HSR domain (3 - 104)

SAND

SAND: SAND domain (190 - 247)

PHD

PHD: PHD-finger (299 - 341)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 545 a.a.
Protein Preferred Names Protein Names

autoimmune regulator

  • autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein

AIRE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AIRE O43918 DAXX Homo sapiens Q9UER7 20185822
Intra
AIRE O43918 H3C1 Homo sapiens P68431
NMR
18292755
Intra
AIRE O43918 H3C1 Homo sapiens P68431 18292755
Intra
AIRE O43918 AIRE Homo sapiens O43918 20185822
Intra
AIRE O43918 AIRE Homo sapiens O43918
Y2H
28540407
Intra
AIRE O43918 AIRE Homo sapiens O43918
Y2H
15712268
Intra
AIRE O43918 H3C1 Homo sapiens P68431 18292755
Intra
AIRE O43918 H3C1 Homo sapiens P68431
ITC
18292755
Intra
AIRE O43918 DAXX Homo sapiens Q9UER7
Y2H
20185822
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
  • APS1

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Apeced

  • Pga I

  • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

  • Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

  • Polyglandular Autoimmune Syndrome, Type 1

  • Autoimmune Polyglandular Syndrome Type 1

  • Autoimmune Polyendocrine Syndrome Type 1

  • Autoimmune Polyendocrinopathy Syndrome Type 1

  • Whitaker Syndrome

  • Aps Type 1

  • Polyglandular Type I Autoimmune Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

  • Aps I

  • Autoimmune Polyglandular Syndrome, Type I

  • Polyglandular Autoimmune Syndrome, Type I

  • Aps 1

  • Autoimmune Polyglandular Syndrome Type I

  • Pga 1

  • Pga-I

  • Polyglandular Autoimmune Syndrome Type 1

  • Type I Polyglandular Autoimmune Syndrome

  • Aire Deficiency

  • Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome, Type 1

  • Autoimmune Polyendocrinopathy Type 1

  • Apeced Syndrome

  • Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

  • Ham Syndrome

  • Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

  • Medac Syndrome

  • Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

  • Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

  • Aps-1

  • Autoimmune Polyendocrine Syndrome Type I

  • Autoimmune Polyendocrinopathy Syndrome Type I

  • Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

  • Polyglandular Autoimmune Syndrome Type I

  • Polyglandular Deficiency Syndrome Persian-Jewish Type

  • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

  • Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Autoimmune Polyendocrine Syndrome Type 1
  • Whitaker Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome I

  • Polyglandular Type I Autoimmune Syndrome

Hypoparathyroidism, Familial Isolated, 1
  • Hypoparathyroidism, Familial Isolated 1

  • FIH1

  • Familial Isolated Hypoparathyroidism Due To Impaired Pth Secretion

  • Hypoparathyroidism, Familial Isolated, Type 1

Candidiasis
  • Systemic Candidiasis

  • Invasive Candidiasis

  • Disseminated Candidiasis

  • Systemic Candida Infections

  • Candidiasis, Invasive

Autoimmune Polyendocrine Syndrome
  • Autoimmune Polyendocrinopathy

  • Autoimmune Polyglandular Failure

  • Autoimmune Polyglandular Syndrome

  • Polyendocrinopathies, Autoimmune

  • Lloyd'S Syndrome

  • Aps

  • Polyendocrinopathies Autoimmune

  • Polyendocrine Autoimmunity Syndrome

  • Lloyd Syndrome

  • Polyglandular Autoimmune Deficiency

  • Progressive Pluriglandular Insufficiency

  • Pluriglandular Autoimmune Atrophy

  • Pluriglandular Autoimmune Syndrome

  • Thyroid-Adrenocortical Insufficiency Syndrome

Polyendocrinopathy
Hypoparathyroidism
  • Hypoparathyroidism, Idiopathic

  • Parathyroid, Underactivity Of

  • Syndrome With Hypoparathyroidism

  • Deficiency Of Parathyroid Hormone

  • Parathyroid Gland Insufficiency

  • Parathyroid Insufficiency

  • Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Autoimmune Disease
  • Autoimmune Diseases

  • Autoimmune Hypersensitivity Disease

  • Hypersensitivity Reaction Type Ii Disease

  • Type Ii Hypersensitivity Reaction Disease

Alopecia Areata
  • Aa

  • Alopecia Celsi

  • Alopecia Circumscripta

  • Cazenave'S Vitiligo

  • Celsus' Vitiligo

  • Diffuse Alopecia

  • Jonston'S Alopecia

  • Marginal Alopecia

  • Pseudopelade

  • Circumscribed Alopecia

  • Alopecia Cicatrisata

  • Patchy Alopecia

  • Alopecia

  • Aa - [Alopecia Areata]

  • Pelade

Alopecia
Chronic Mucocutaneous Candidiasis
  • Candidiasis, Chronic Mucocutaneous

  • Cmc

  • Candidiasis Chronic Mucocutaneous

Autoimmune Hepatitis
  • Aih

  • Hepatitis, Autoimmune

  • Autoimmune Chronic Active Hepatitis

  • Autoimmune Hepatitis With Centrilobular Necrosis

  • Autoimmune Chronic Hepatitis

  • Hepatitis Autoimmune

Hypoadrenocorticism, Familial
  • Addison Disease

  • Primary Adrenocortical Insufficiency

  • Addison'S Disease

  • Adrenal Gland Hypofunction

  • Adrenal Hypoplasia

  • Adrenal Aplasia

  • Addison Disease, Chronic Adrenal Insufficiency

  • Primary Hypoadrenalism

  • Hypoadrenocorticism Familial

  • Autoimmune Addison Disease

  • Autoimmune Adrenalitis

  • Classic Addison Disease

  • Primary Addison Disease

  • Addisons Disease

  • Addison Disease, Susceptibility To

  • Autoimmune Primary Adrenal Insufficiency

  • Addison'S Disease Due To Autoimmunity

Pernicious Anemia
  • Anemia, Pernicious

  • Anemia Pernicious

  • Pernicious Anaemia

  • Addison'S Anaemia

  • Biermer'S Anaemia

  • Biermer'S Anemia

  • Acquired Pernicious Anemia

  • Addison-Biermer Anemia

  • Addisonian Anemia

  • Biermer Anemia

  • Biermer'S Disease

  • Juvenile Onset Pernicious Anemia

  • Biermer Disease

  • Biermer-Addison Disease

Systemic Autoimmune Disease
Metaphyseal Dysplasia
  • Bakwin-Krida Syndrome

  • Pyle'S Disease

  • Pyle-Cohn Syndrome

Thymoma
  • Primary Thymic Epithelial Neoplasm

  • Primary Thymic Epithelial Tumor

  • Thymus Neoplasms

Omenn Syndrome
  • Histiocytic Medullary Reticulosis

  • Severe Combined Immunodeficiency With Hypereosinophilia

  • Combined Immunodeficiency With Hypereosinophilia

  • Reticuloendotheliosis, Familial, With Eosinophilia

  • Reticuloendotheliosis Familial With Eosinophilia

  • Familial Reticuloendotheliosis

  • Omenn'S Syndrome

  • OS

  • Malignant Histiocytosis

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
  • Vitiligo

  • VAMAS1

  • Slev1

  • Vtlg

  • Systemic Lupus Erythematosus, Vitiligo-Related

  • Vitiligo-Associated Multiple Autoimmune Disease 1

  • Systemic Lupus Erythematosus Vitiligo-Related

Myasthenia Gravis
  • MG

  • Acquired Myasthenia

  • Autoimmune Myasthenia Gravis

  • Erb-Goldflam Disease

  • Mg - [Myasthenia Gravis]

  • Myasthenia Gravis Nos

  • Myasthenia

Wissler-Fanconi Syndrome
  • Wissler'S Syndrome

  • Wissler'S Subsepsis Allergica

Opportunistic Mycosis
  • Opportunistic Mycoses

  • Opportunistic Systemic Mycoses

Adrenal Cortical Hypofunction
  • Adrenal Cortical Insufficiency

  • Corticoadrenal Insufficiency

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Ectodermal Dysplasia
  • Congenital Ectodermal Defect

  • Congenital Ectodermal Dysplasia

  • Ectodermal Dysplasia Syndrome

  • Dysplasia, Ectodermal

Dendritic Cell Thymoma
  • Epithelioid Thymoma

  • Type B Thymoma

Nail Disease
  • Nail Diseases

  • Abnormality Of The Nail

  • Nail Anomaly

Fungal Infectious Disease
  • Mycoses

  • Mycosis

Cutaneous Candidiasis
  • Candidiasis, Cutaneous

Graves' Disease
  • Graves Disease

  • Exophthalmic Goiter

  • Basedow'S Disease

  • Grave'S Disease

  • Basedow Disease

  • Toxic Diffuse Goiter

  • Graves' Hyperthyroidism

  • Parry Disease

  • Autoimmune Hyperthyroidism

  • Toxic Multinodular Goiter

Thyroiditis
  • Inflammation Of Thyroid

  • Thyroiditis Nos

Adrenal Cortex Disease
  • Adrenal Cortex Diseases

Autoimmune Disease Of Endocrine System
Alopecia Universalis Congenita
  • Alopecia Universalis

  • ALUNC

  • Atrichia, Generalized

  • Au

  • Alopecia Areata Universalis

  • Atrichia Generalized

Cortical Thymoma
  • Polygonal Cell Thymoma

  • Thymoma, Cortical

  • Thymoma, Type B2

Autoimmune Polyendocrine Syndrome, Type Ii
  • Schmidt Syndrome

  • Autoimmune Polyendocrine Syndrome Type 2

  • APS2

  • Autoimmune Polyglandular Syndrome Type 2

  • Diabetes Mellitus, Addison Disease, Myxedema

  • Polyglandular Autoimmune Syndrome, Type Ii

  • Pga Ii

  • Polyendocrine Autoimmune Syndrome, Type Ii

  • Aps Ii

  • Autoimmune Polyglandular Syndrome Type Ii

  • Diabetes Mellitus, Addison'S Disease, Myxedema

  • Multiple Endocrine Deficiency Syndrome, Type 2

  • Pga 2

  • Pga-Ii

  • Polyglandular Autoimmune Syndrome, Type 2

  • Polyglandular Deficiency Syndrome Type 2

  • Schmidt'S Syndrome

  • Autoimmune Polyendocrinopathy Type 2

  • Aps Type 2

  • Autoimmune Thyroid Disease And/Or Type 1 Diabetes-Addison Disease Syndrome

  • Autoimmune Syndrome Type Ii Polyglandular

  • Autoimmune Syndrome Type Ii, Polyglandular

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
  • IPEX

  • X-Linked Autoimmunity-Allergic Dysregulation Syndrome

  • Xlaad

  • Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

  • Ipex Syndrome

  • Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

  • Iddm-Secretory Diarrhea Syndrome

  • Dmsd

  • Autoimmunity-Immunodeficiency Syndrome, X-Linked

  • Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

  • Xpid

  • Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

  • Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

  • Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

  • Autoimmune Enteropathy Type 1

  • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

  • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

  • Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

  • Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

  • Autoimmunity-Immunodeficiency Syndrome X-Linked

  • Iddm Secretory Diarrhea Syndrome

  • Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

  • Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

  • X-Linked Autoimmunity-Immunodeficiency Syndrome

  • Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

  • X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Thymic Dysplasia
Diabetes Mellitus
  • Diabetes

Blepharophimosis
Thymus Squamous Cell Carcinoma
  • Epidermoid Thymic Carcinoma

  • Thymic Squamous Cell Carcinoma

Focal Chorioretinitis
Predominantly Cortical Thymoma
  • Lymphocyte-Predominant Thymoma

  • Thymoma, Organoid

  • Thymoma, Type B1

Hashimoto Thyroiditis
  • Autoimmune Thyroiditis

  • Hashimoto Struma

  • Hashimoto'S Thyroiditis

  • Chronic Lymphocytic Thyroiditis

  • Lymphocytic Thyroiditis

  • Hashimoto Disease

  • Ht

  • Hashimoto'S Disease

  • Hashimoto'S Syndrome

  • Hypothyroidism, Autoimmune

  • Autoimmune Chronic Lymphocytic Thyroiditis

  • Chronic Lymphocytic Thyroiditides

  • Hashimoto Syndrome

  • Hashimotos Thyroiditis

  • Hashimoto Thyroiditis, Susceptibility To

  • Thyroiditis, Autoimmune

  • Lymphomatous Thyroiditis

  • Lymphoid Thyroiditis

  • Chronic Lymphadenoid Thyroiditis

  • Autoimmune Lymphocytic Chronic Thyroiditis

  • Goitre Lymphomatosa

  • Hashitoxicosis

  • Hashimoto Hypothyroidism

  • Lymphadenoid Goitre

  • Struma Lymphomatosa

  • Hyperthyroidism With Hashimoto Disease

  • Hashimoto Thyrotoxicosis

  • Thyrotoxicosis Due To Hashimoto Thyroiditis

  • Struma Lymphomatosis

  • Lymphadenoid Struma

Autoimmune Peripheral Neuropathy
Keratoconjunctivitis
Epithelial Malignant Thymoma
  • Squamoid Thymoma

  • Thymoma, Epithelial

  • Well Differentiated Thymic Carcinoma

  • Thymoma, Type B3

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

Thymus Gland Disease
  • Disease Of Thymus Gland

Angular Cheilitis
  • Cheilosis

  • Angular Cheilosis

  • Angular Stomatitis

  • Commissural Cheilitis

Hair Disease
  • Hair Diseases

  • Hair Anomaly

  • Hair Disorder

  • Hair Problems

Slate Pneumoconiosis
  • Schistosis

Autoimmune Gastritis
Thymus Cancer
  • Thymic Neoplasm

  • Thymic Tumor

  • Thymus Neoplasm

  • Thymus Neoplasms

  • Malignant Neoplasm Of Thymus

  • Neoplasm Of Thymus

  • Thymic Neoplasms

  • Thymoma, Familial

  • Thymic Carcinoma

  • Thymoma, Type C

  • Cancer Of Thymus

  • Malignant Tumour Of Thymus

  • Primary Malignant Neoplasm Of Thymus

  • Thymic Glandular Cancer

  • Thymus Gland Cancer

Esophageal Candidiasis
  • Candidiasis Of The Esophagus

  • Candida Esophagitis

  • Candidal Esophagitis

  • Esophageal Moniliasis

  • Esophageal Thrush

Diarrhea 4, Malabsorptive, Congenital
  • Enteric Anendocrinosis

  • Congenital Malabsorptive Diarrhea 4

  • DIAR4

  • Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells

  • Congenital Malabsorptive Diarrhoea 4

  • Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells

  • Diarrhea, Type 4, Malabsorptive, Congenital

Keratopathy
Oral Candidiasis
  • Thrush

  • Candidiasis Of Mouth

  • Oral Moniliasis

  • Thrush, Oral

  • Candidiasis, Oral

  • Oral Thrush

  • Candidiasis

  • Equine Thrush

Granulomatous Orchitis
  • Non-Specific Granulomatous Orchitis

Amyotrophic Lateral Sclerosis 9
  • Amyotrophic Lateral Sclerosis Type 9

  • ALS9

  • Sclerosis, Lateral, Amyotrophic, Type Type 9

Familial Isolated Hypoparathyroidism
  • Fih

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Type 1 Diabetes Mellitus 2
  • Diabetes Mellitus, Noninsulin-Dependent, 1

  • Diabetes Mellitus, Insulin-Dependent, 2

  • IDDM2

  • Insulin-Dependent Diabetes Mellitus 2

  • NIDDM1

  • Diabetes Mellitus, Noninsulin-Dependent 1

  • T1D2

  • Type 2 Diabetes Mellitus 1

  • T2D1

  • Noninsulin-Dependent Diabetes Mellitus 1

  • Diabetes Mellitus, Non-Insulin-Dependent, 1

  • Type 2 Diabetes Mellitus 1, Susceptibility To

  • Diabetes Mellitus, Insulin-Dependent, Type 2

  • Diabetes Mellitus, Non-Insulin-Dependent

Cholangitis, Primary Sclerosing
  • Primary Sclerosing Cholangitis

  • PSC

  • Sclerosing Cholangitis

  • Cholangitis, Sclerosing

  • Cholangitis Primary Sclerosing

  • Psc - [Primary Sclerosing Cholangitis]

Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

Pure Red-Cell Aplasia
  • Pure Red Cell Aplasia

  • Primary Red Cell Aplasia

  • Red Cell Hypoplasia

  • Prca

  • Red-Cell Aplasia Pure

  • Red-Cell Aplasia, Pure

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Immunodeficiency 58
  • IMD58

  • Severe Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Rltpr Deficiency

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Mediastinum Sarcoma
  • Sarcoma Of Mediastinum

Hyper Ige Syndrome
  • Hyper-Ige Syndrome

  • Hyper Immunoglobulin E Syndrome

  • Hies

  • Hyper-Ige Recurrent Infection Syndrome

  • Hyperimmunoglobulin E Syndrome

  • Hyper Ige

  • Job Syndrome

  • Hartnup Disease

T-Cell Immunodeficiency With Thymic Aplasia
  • Nezelof Syndrome

  • T-Lymphocyte Deficiency

  • TIDTA

  • Immune Defect Due To Absence Of Thymus

  • Thymic Aplasia

  • Nezelof'S Syndrome

  • Thymic Dysplasia With Normal Immunoglobulins

  • Thymic Aplasia Syndrome

  • T-Lymphocyte Immunodeficiency

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Primary Biliary Cholangitis
  • Primary Biliary Cirrhosis

  • Biliary Liver Cirrhosis

  • Chronic Nonsuppurative Destructive Cholangitis

  • Familial Primary Biliary Cirrhosis

  • Pbc

  • Hanot Syndrome

  • Cholestatic Cirrhosis

  • Biliary Cirrhosis Primary

  • Liver Cirrhosis, Biliary

  • Hanot'S Cirrhosis

  • Biliary Cirrhosis

  • Pericholangiolic Biliary Cirrhosis

  • Tannhauser-Magendantz Syndrome

  • Hanot-Rossle Syndrome

  • Hypertrophic Cirrhosis

  • Todd Cirrhosis

  • Hanot Cirrhosis

  • Charcot Cirrhosis

  • Mahon-Tannhauser Syndrome

  • Toxic Cirrhosis

  • Hypertrophic Biliary Cirrhosis

  • Monolobular Cirrhosis

  • Unilobar Cirrhosis

  • Xanthomatous Biliary Cirrhosis

Autoimmune Lymphoproliferative Syndrome
  • ALPS

  • Canale-Smith Syndrome

  • Autoimmune Lymphoproliferative Syndrome, Type Ia

  • Autoimmune Lymphoproliferative Syndrome, Type Ib

  • Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

  • Css

  • Autoimmune Lymphoproliferative Syndrome, Type 1b

  • Autoimmune Lymphoproliferative Syndrome, Type 1a

  • Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

  • Fas Deficiency

  • Autoimmune Lymphoproliferative Syndrome 1a

  • ALPS1A

  • Autoimmune Lymphoproliferative Syndrome Type Ia

  • Autoimmune Lymphoproliferative Syndrome 1b

  • ALPS1B

  • Autoimmune Lymphoproliferative Syndrome Type Ib

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Celiac Disease 1
  • Celiac Disease

  • Coeliac Disease

  • Celiac Sprue

  • Celiac Disease, Susceptibility To

  • Gluten-Sensitive Enteropathy

  • Nontropical Sprue

  • Sprue

  • CELIAC1

  • Celiac Disease, Susceptibility To, 1

  • Celiac Sprue 1

  • Celiac Sprue, Susceptibility To, 1

  • Gluten-Sensitive Enteropathy 1

  • Gluten-Sensitive Enteropathy, Susceptibility To, 1

  • Idiopathic Steatorrhea

  • Cœliac Disease

  • Gluten Intolerance

  • Gluten-Induced Enteropathy

  • Gluten Enteropathy

  • Celiac Disease, Susceptibility To, Type 1

  • Childhood Celiac Disease

  • Coeliac Rickets

  • Gee Disease

  • Gee-Herter Disease

  • Heubner-Herter Disease

  • Idiopathic Steatorrhoea

  • Thaysen'S Disease

  • Herter Gee Syndrome

Skin Disease
  • Skin Diseases

  • Genodermatosis

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta AIRE VGNC VGNC:69760
Mus musculus AIRE MGD MGI:1338803
Bos taurus AIRE VGNC VGNC:53512
Canis familiaris AIRE VGNC VGNC:37743
Rattus norvegicus AIRE RGD RGD:1311139
Felis catus AIRE VGNC VGNC:59704
Others AIRE NCBI