6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
20 citations
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January 2012 in “Indian Journal of Endocrinology and Metabolism” This study found that 76.19% of patients with acquired hypoparathyroidism had mucocutaneous manifestations, with common features including loss of hair and xerotic skin.
7 citations
,
August 2020 in “Scientifica” This study found that a high percentage of HIV-positive patients experienced mucocutaneous lesions, with conditions like oral candidiasis and furuncle being significantly associated with lower CD4 cell counts.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
16 citations
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January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses the role of skin manifestations as early markers and prognostic indicators of HIV infection in children but reports no new clinical results.