Concepedia

Hypoparathyroidism-candidiasis-ectodermal Dystrophy

Hypoparathyroidism-Candidiasis-Ectodermal Dystrophy is a rare autosomal recessive disorder characterized by the triad of hypoparathyroidism, chronic mucocutaneous candidiasis, and ectodermal dystrophy, resulting from mutations in the AIRE gene that disrupt immune tolerance and ectodermal development.

57

Publications

3.4K

Citations

313

Authors

102

Institutions

Publications per year

2017–2026

4

Variants

ApecedAps-1Whitaker Syndrome

Parents

Publications

57

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Jaakko Perheentupa · The Journal of Clinical Endocrinology & Metabolism · 2006 · 601 citations · Full text

, , +17

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Elise M. N. Ferré, Stacey Rose, Sergio D. Rosenzweig et al. · JCI Insight · 2016 · 304 citations · Full text

, , +16

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

Filomena Cetani, Giuseppe Barbesino, Simona Borsari et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 207 citations

, , +17

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

Maria Halonen, Petra Eskelin, Anne-Grethe Myhre et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 203 citations · Full text

, , +17

Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance

Pekka Ahonen · Clinical Genetics · 1985 · 183 citations

, , +14

1–5 of 57

Authors

313

  1. JP
    Jaakko Perheentupa

    University of Helsinki, Finland

    6 publications · 955 citations

    6

    h-index

  2. CB
    Corrado Betterle

    University of Padua, Italy

    4 publications · 324 citations

    4

    h-index

  3. MH
    Maria Halonen

    Institute for Molecular Medicine Finland, Finland

    3 publications · 323 citations

    3

    h-index

  4. OK
    Olle Kämpe

    Uppsala University, Sweden

    3 publications · 324 citations

    3

    h-index

  5. FD
    Filippo De Luca

    University of Messina, Italy

    3 publications · 128 citations

    3

    h-index

1–5 of 313

Institutions

102

  1. University of Helsinki

    Helsinki, Finland

    5 h-index

    14 publications

    838 citations

  2. Helsinki University Hospital

    Helsinki, Finland

    5 h-index

    14 publications

    1.2K citations

  3. University of Padua

    Padua, Italy

    4 h-index

    11 publications

    813 citations

  4. Helsinki Children's Hospital

    Helsinki, Finland

    3 h-index

    5 publications

    817 citations

  5. National Institute of Allergy and Infectious Diseases

    Bethesda, United States

    3 h-index

    25 publications

    5.2K citations

  6. Institute for Molecular Medicine Finland

    Helsinki, Finland

    3 h-index

    3 publications

    323 citations

  7. University of Messina

    Messina, Italy

    3 h-index

    6 publications

    277 citations

  8. All India Institute of Medical Sciences

    New Delhi, India

    2 h-index

    7 publications

    232 citations

1–8 of 102

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 11 publications · 1.5K citations

    11

    h-index

  2. PubMed

    Repository · 9 publications · 219 citations

    9

    h-index

  3. 4

    h-index

  4. Oral Surgery Oral Medicine Oral Pathology

    3 publications · 106 citations

    3

    h-index

  5. Hormone Research in Paediatrics

    2 publications · 75 citations

    2

    h-index

1–5