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Revista alergia México
versão On-line ISSN 2448-9190
Resumo
GARCIA-DOMINGUEZ, Miguel et al. Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia. A case report. Rev. alerg. Méx. [online]. 2021, vol.68, n.2, pp.144-149. Epub 01-Nov-2021. ISSN 2448-9190. https://doi.org/10.29262/ram.v658i2.862.
Introduction:
Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia is an inborn error of immunity, characterized by a classic triad (chronic mucocutaneous candidiasis, hyperparathyroidism, and adrenal insufficiency) due to the presence of autoantibodies against different endocrine and non-endocrine organs; and it is predominant in Jews and Finns.
Case report:
A 7-year-old girl of European descent and positive consanguinity, with a personal history of recurrent respiratory infections, chronic candidiasis, pseudomembranous colitis, and pancytopenia. The clinical findings raised suspicions of an inborn error of immunity, and the accurate diagnosis of APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) was made by detecting a pathogenic variant in the AIRE gene through new- generation sequencing technologies.
Conclusion:
Nowadays, there is access to new genetic tools to establish an early diagnosis of the different inborn errors of immunity; thus, offering timely treatment and a better prognosis.
Palavras-chave : Chronic mucocutaneous candidiasis; APECED; AIRE.