Jaakko Perheentupa

Research interests

Publications

• Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

  Immunity · 2015 · https://doi.org/10.1016/j.immuni.2015.04.021

• Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

  The Journal of Experimental Medicine · 2010 · https://doi.org/10.1084/jem.20091669

• Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I

  Journal of Internal Medicine · 2009 · https://doi.org/10.1111/j.1365-2796.2009.02090.x

• Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

  New England Journal of Medicine · 2008 · https://doi.org/10.1056/nejmoa0706487

• A Defect of Regulatory T Cells in Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  The Journal of Immunology · 2007 · https://doi.org/10.4049/jimmunol.178.2.1208

• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  The Journal of Clinical Endocrinology & Metabolism · 2006 · https://doi.org/10.1210/jc.2005-2611

• Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1

  PLoS Medicine · 2006 · https://doi.org/10.1371/journal.pmed.0030289

• Oral and oesophageal squamous cell carcinoma – A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)

  Oral Oncology · 2006 · https://doi.org/10.1016/j.oraloncology.2006.07.005

• Prevalence and Clinical Associations of 10 Defined Autoantibodies in Autoimmune Polyendocrine Syndrome Type I

  The Journal of Clinical Endocrinology & Metabolism · 2004 · https://doi.org/10.1210/jc.2003-030279

• APS-I/APECED: the clinical disease and therapy

  Endocrinology and Metabolism Clinics of North America · 2002 · https://doi.org/10.1016/s0889-8529(01)00013-5

• AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype

  The Journal of Clinical Endocrinology & Metabolism · 2002 · https://doi.org/10.1210/jcem.87.6.8564

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

  The American Journal of Human Genetics · 2000 · https://doi.org/10.1086/302765

• Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

  Nature Genetics · 2000 · https://doi.org/10.1038/77053

• Identification of tryptophan hydroxylase as an intestinal autoantigen

  The Lancet · 1998 · https://doi.org/10.1016/s0140-6736(97)11050-9

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

  Nature Genetics · 1997 · https://doi.org/10.1038/ng1297-399

• Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I.

  The Journal of Clinical Endocrinology & Metabolism · 1996 · https://doi.org/10.1210/jcem.81.4.8636356

• Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease.

  The Journal of Clinical Endocrinology & Metabolism · 1994 · https://doi.org/10.1210/jcem.78.2.8106620

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

  Nature Genetics · 1994 · https://doi.org/10.1038/ng0994-83

• Variation of Growth in Height and Weight of Children II. After Infancy

  Acta Paediatrica · 1990 · https://doi.org/10.1111/j.1651-2227.1990.tb11503.x

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

  New England Journal of Medicine · 1990 · https://doi.org/10.1056/nejm199006283222601

• Adrenal and Steroidal Cell Antibodies in Patients with Autoimmune Polyglandular Disease Type I and Risk of Adrenocortical and Ovarian Failure*

  The Journal of Clinical Endocrinology & Metabolism · 1987 · https://doi.org/10.1210/jcem-64-3-494

• Exclusively Breast-Fed Healthy Infants Grow Slower than Reference Infants

  Pediatric Research · 1985 · https://doi.org/10.1203/00006450-198503000-00011

• Exclusive breast-feeding for 9 months: Risk of iron deficiency

  The Journal of Pediatrics · 1984 · https://doi.org/10.1016/s0022-3476(84)80991-9

• A Novel Format for a Growth Chart

  Acta Paediatrica · 1984 · https://doi.org/10.1111/j.1651-2227.1984.tb09965.x

• Lysinuric protein intolerance

  The American Journal of Medicine · 1975 · https://doi.org/10.1016/0002-9343(75)90358-7

• Hereditary diseases in Finland; rare flora in rare soul.

  PubMed · 1973

Current projects

No projects listed.