0000000001227053
AUTHOR
Filippo De Luca
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives
Summary Objective Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare syndrome characterized by chronic candidiasis, chronic hypoparathyroidism and Addison's disease. APECED has been associated with mutations in autoimmune regulator (AIRE) gene. Our aim is to perform a genetic analysis of the AIRE gene in Italian APECED patients and in their relatives. Design AIRE mutations were determined by DNA sequencing in all subjects. Patients were tested for clinical autoimmune or non-autoimmune diseases, or for organ and non-organ specific autoantibodies. Patients A total of 24 Italian patients with APECED (15 from the Venetian region, 2 from Southern-Tyrol, 4 from…
Scalp eschar and neck lymphadenopathy caused by Rickettsia massiliae
To the Editor: Scalp eschar and neck lymphadenopathy is a common clinical entity that most frequently affects women and children during spring and fall. It is usually caused by Rickettsia slovaca and R. raoultii. Typical clinical signs are a scalp lesion at the tick bite site and regional, often painful, lymphadenopathy. Acute disease can be followed by residual alopecia at the bite site (1,2). Two designations have been proposed for this syndrome: tick-borne lymphadenopathy and Dermacentor-borne necrosis-erythema-lymphadenopathy (both have been associated with R. slovaca); however, the most generic and all-inclusive term is scalp eschar and neck lymphadenopathy. R. massiliae belongs to the…