Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort
Authors' conclusion
This first prospective cohort showed a high AIRE genotype variability, with 2 new gene variants. The prevalence of potentially life-threatening nonendocrine manifestations was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination and targeted therapeutic approaches.
Study context
- Population
- Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, French cohort23 families
- Participants
- 25 patients
- Outcome
- AIRE molecular profile and prevalence of manifestations
Methodological detailsnational, multicenter, prospective observational
- National
- Multicenter
- Prospective observational
Main finding
As reported in the abstract
- Distinct AIRE variants identified
- 11
- Previously unreported variants: intronic c.653-70G > A and c.1066del (p.Arg356GlyfsX22) (exon 9)
- 2
- Finnish variant c.769C > T (most common), alleles
- 16
- Variant c.967_979del13, alleles (seemed associated with a less severe phenotype)
- 15
- Homozygote patients
- 17/25
- Median number of clinical manifestations
- 7
- Hypoparathyroidism-adrenal failure-CMC triad
- 19/25
- Pulmonary involvement
- 8/13
- Ectodermal dystrophy
- 20/25
- Malabsorption
- 8/25
- Asplenia
- 6/23
Observational data: associations, not effects.
Further findings
Immunological disturbances vs matched controls
- NK cell lymphopenia with increased CD4+ and CD8+ T lymphocytes and age-dependent alteration of B lymphocyte homeostasis vs matched controls (P < .001), related to disease severity
- 15/19
Anti-cytokine autoantibodies
- Anti-interferon-α positive (all tested sera)
- 18/18
- Anti-IL-22 antibodies
- 15/18
- Anti-IL-17F antibodies
- 13/18
- No clear phenotypic correlation other than with CMC
Original publication
Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort. J Clin Endocrinol Metab. Published 12 April 2024. doi:10.
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