Evidence map›Paper›PMID 32767280›Full record

ReviewJournal of endocrinological investigation2021

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

A Fierabracci, A Arena, F Toto, N Gallo, A Puel, M Migaud, M Kumar, K G Chengappa, R Gulati, V S Negi and 1 more

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Journal of endocrinological investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. A novel heterozygous pathogenicJournal of human immunity · 2025
    Article
  5. Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 3 countries.

A FierabracciInfectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. alessandra.fierabracci@opbg.net.
A ArenaInfectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
F TotoInfectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
N GalloLaboratory Medicine, Department of Medicine (DIMED), University of Padua, Padua, Italy.
A PuelLaboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France.
M MigaudLaboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France.
M KumarDepartment of Clinical Immunology, JIPMER, Pondicherry, India.
K G ChengappaDepartment of Clinical Immunology, JIPMER, Pondicherry, India.
R GulatiEndocrine Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.
V S NegiDepartment of Clinical Immunology, JIPMER, Pondicherry, India.
C BetterleEndocrine Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.
Bambino Gesù Children's Hospital · ITJawaharlal Institute of Post Graduate Medical Education and Research · INUniversity of Padua · ITInserm · FR

Funding

Ministero della Salute Ricerca Corrente RC2019.1.6
6 · The paper itself

Abstract

backgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagnosis is classically based on the presence of at least two of the three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Patients often suffer from other endocrine or non-endocrine autoimmune conditions throughout life. APECED etiopathogenesis is mediated by T lymphocytes. Autoantibodies against proteins of the affected organs are found in the serum of APECED patients as well as neutralizing antibodies against cytokines. We report here the clinical and genetic characteristics of 45 Indian APECED patients in comparison to Finnish, Sardinian, Turkish and North/South American cohorts from their published results. We also report a new case of APECED of Indian origin, a 2-year old child suffering from chronic mucocutaneous candidiasis since the age of 8 months, with confirmatory AIRE homozygous mutation c.274C > T (p.R92W).

conclusionWith the inherent limitations of a retrospective study, analysis of Indian APECED patients suggested that compared to classic criteria, application of Ferre/Lionakis criteria validated in North/South American patients could help in earlier diagnosis in 3 of 8 (37.5%) patients for whom adequate information for evaluation was available.

Indexed as

Addison DiseaseCandidiasis, Chronic MucocutaneousHypoparathyroidismPolyendocrinopathies, AutoimmuneAIRE ProteinChild, PreschoolDiagnosis, DifferentialEarly DiagnosisFemaleGenetic Association StudiesGenetic TestingHumansIndiaMaleMutationTranscription FactorsAIRE ProteinTranscription FactorsAIREAPECEDAutoantibodiesAutoimmune polyglandular syndrome type 1Genotype–phenotype variabilityIndian population

Identifiers

PMID32767280
OpenAlexW3047831842

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.