Article
[Type 1 polyglandular autoimmune syndrome associated with C322fsx372 mutation].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2015
Roncalés-Samanes P, de Arriba Muñoz A, Lou Francés G M, Ferrer Lozano M, Justa Roldán M L, Labarta Aizpun J I
Abstract excerpt
Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was...
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