A case of childhood autoimmune polyglandular syndrome type 1

Alpcan, Ayşegül; Eris, Bilge; Durmaz, Şenay Arıkan; Çi̇fci̇, Aydın; Kalan, Isilay

doi:10.1530/endoabs.37.ep1286

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In this manuscript we present the clinical, immunological and genetic features of a new case of APECED and review in the literature from 2000 to date a Turkish APECED series of patients, mostly diagnosed on clinical findings [29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45]. Results of the analysis were compared with those retrieved on Finnish, Sardinian and North/South American cohorts [9,10,28] based on classic versus novel Ferre/ (continued on next page)…”

Section: Discussionmentioning

confidence: 99%

APECED in Turkey: A case report and insights on genetic and phenotypic variability

Fierabracci

Pellegrino

Frasca

et al. 2018

Clinical Immunology

View full text Add to dashboard Cite

APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 published Turkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, we assessed retrospectively how often the Ferre/Lionakis criteria would have resulted in earlier diagnosis in Finns, Sardinians and Turks in respect to the classic criteria. Since an earlier diagnosis could have been possible in 18.8% of Turkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria could indeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies.

show abstract