Article
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
Clinical & developmental immunology - 1 Jan 2010
Al-Owain Mohammed, Kaya Namik, Al-Zaidan Hamad, Bin Hussain Ibrahim, Al-Manea Hadeel, Al-Hindi Hindi, Kennedy Shelley, Iqbal M Anwar, Al-Mojalli Hamad, Al-Bakheet Albandary, Puel Anne, Casanova Jean-Laurent, Al-Muhsen Saleh
Abstract excerpt
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental re...
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