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Article

High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.

Journal of endocrinological investigation - 1 Jan 2012

Capalbo D, Fusco A, Aloj G, Improda N, Vitiello L, Dianzani U, Betterle C, Salerno M, Pignata C

Abstract excerpt

INTRODUCTION: Autoimmune polyendocrinopathy- candidiasis-ectodermal-dystrophy syndrome (APECED) is a monogenic disease whose phenotype may reveal wide heterogeneity. The reasons of this variability still remain obscure. PATIENTS AND METHODS: Two APECED siblings with identical genotype and extremely different phenotype were compared with regard to exposure to infectious triggers, autoantibodies' profile,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fluorescent Antibody Technique, Indirect

Share to Leukocytes, Mononuclear

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Source

Identifiers

PMID: 22071465
DOI: 10.3275/8055

Genes

PRF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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