Distinct Clinical Phenotype and Immunoreactivity in Japanese Siblings with Autoimmune Polyglandular Syndrome Type 1 (APS-1) Associated with Compound Heterozygous Novel AIRE Gene Mutations

Positional cloning of the APECED gene

1997 • 1,385 citations

Insulin-Dependent Diabetes Mellitus

1996 • 1,171 citations

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1997 • 1,155 citations

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

1990 • 1,041 citations

Genetic Control of Autoimmune Diabetes in the Nod Mouse

1995 • 586 citations

Two Types of Autoimmune Addisonʼs Disease Associated with Different Polyglandular Autoimmune (PGA) Syndromes

1981 • 532 citations

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

2002 • 463 citations

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1994 • 379 citations

Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein

2000 • 358 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

Autoimmune Regulator Is Expressed in the Cells Regulating Immune Tolerance in Thymus Medulla

1999 • 293 citations

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

1998 • 244 citations

A Novel Mutation of the Autoimmune Regulator Gene in an Italian Kindred with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Acting in a Dominant Fashion and Strongly Cosegregating with Hypothyroid Autoimmune Thyroiditis

2001 • 199 citations

A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1

1998 • 198 citations

Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins

1998 • 171 citations

T cell receptor V-segment frequencies in peripheral blood T cells correlate with human leukocyte antigen type.

1991 • 166 citations

Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease.

1995 • 157 citations

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)

1998 • 136 citations

Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in an Adolescent Girl with a NovelAIREMutation: Response to Immunosuppressive Therapy¹

1999 • 136 citations

Expression of AIRE gene in peripheral monocyte/dendritic cell lineage

2002 • 130 citations

Genetic analysis of HLA class II alleles and susceptibility to Type 1 (insulin-dependent) diabetes mellitus in Japanese subjects

1992 • 128 citations

Mutation analyses of North American APS-1 patients

1999 • 125 citations

Evidence for Defective Immunoregulation in the Syndrome of Familial Candidiasis Endocrinopathy

1979 • 109 citations

HLA Type and Occurrence of Disease in Familial Polyglandular Failure

1978 • 99 citations

Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in an Adolescent Girl with a Novel AIRE Mutation: Response to Immunosuppressive Therapy

1999 • 96 citations

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

2001 • 90 citations

Epstein‐Barr Virus (EBV) Load and Cytokine Gene Expression in Activated T Cells of Chronic Active EBV Infection

2001 • 90 citations

Comparison of human and mouse T-cell receptor variable gene segment subfamilies

1995 • 81 citations

Human gamma delta T-cell receptor-positive cell-mediated inhibition of erythropoiesis in vitro in a patient with type I autoimmune polyglandular syndrome and pure red blood cell aplasia [see comments]

1990 • 59 citations

Autoantibodies against Aromatic l-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison’s Disease1

2000 • 57 citations

Major histocompatibility complex class II and III in Addison's disease MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility

1994 • 52 citations

Novel Mutations of the Autoimmune Regulator Gene in Two Siblings with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy¹

2000 • 47 citations

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

2001 • 46 citations

Novel Mutations of the Autoimmune Regulator Gene in Two Siblings with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2000 • 41 citations

Human Leukocyte Antigen-A24 and -DQA1*0301 in Japanese Insulin-Dependent Diabetes Mellitus: Independent Contributions to Susceptibility to the Disease and Additive Contributions to Acceleration of β-Cell Destruction*

1999 • 41 citations

DR- and DQ-Associated Protection from Type 1A Diabetes: Comparison of DRB1¹1401 and DQA1¹0102-DQB1¹0602¹

2000 • 40 citations

In vitro primary responses of human T cells to soluble protein antigens

1994 • 38 citations

HLA, molecular mimicry and multiple sclerosis.

2000 • 31 citations

Autoantibodies against Aromatic L-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison's Disease

2000 • 29 citations

DR- and DQ-Associated Protection from Type 1A Diabetes: Comparison of DRB11401 and DQA10102-DQB10602

2000 • 28 citations

Three Sisters with Addison’s Disease

1998 • 21 citations

Three Sisters with Addison's Disease

1998 • 11 citations