0000000001227053

AUTHOR

Filippo De Luca

showing 2 related works from this author

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectoderma…

2009

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…

AdultMaleHeterozygotemedicine.medical_specialtyanimal structuresAdolescentHypoparathyroidismEndocrinology Diabetes and MetabolismGene mutationmedicine.disease_causeCompound heterozygositySettore MED/13 - EndocrinologiaCohort StudiesLoss of heterozygosityYoung AdultEndocrinologyAddison DiseaseInternal medicinemedicineHumansChildPolyendocrinopathies AutoimmuneAgedGeneticsMutationGenetic heterogeneitybusiness.industryHomozygoteCandidiasisAutoantibodyAutoimmune polyendocrinopathyMiddle AgedAutoimmune regulatorEndocrinologyItalyCase-Control StudiesMutationAPS1 AIRE APECEDFemalebusinessTranscription Factors
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Scalp eschar and neck lymphadenopathy caused by Rickettsia massiliae

2013

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…

MalePathologyLetterEpidemiologylcsh:MedicineSerologyMedicineRickettsiaRickettsia massiliaebacteriafeverbiologyRickettsia InfectiontickInfectious Diseasesmedicine.anatomical_structuremedicine.symptomDermacentorHumanDNA BacterialMicrobiology (medical)medicine.medical_specialtyAdolescentSettore MED/17 - Malattie InfettiveMolecular Sequence DataInfectious DiseaseEscharTicklcsh:Infectious and parasitic diseasesCicatrixBacterial Typing Techniquelymphadenopathylcsh:RC109-216Rickettsia; Rickettsia massiliae; bacteria; eschar; fever; lymphadenopathy; scalp eschar and neck lymphadenopathy; tick; Adolescent; Alopecia; Animals; Bacterial Typing Techniques; Base Sequence; Cicatrix; DNA Bacterial; Dermacentor; Humans; Lymphatic Diseases; Male; Molecular Sequence Data; Rickettsia; Rickettsia Infections; Scalp; Microbiology (medical); Infectious Diseases; EpidemiologyLetters to the EditorDermacentorRickettsia massiliaeScalpScalp EscharBase Sequencebusiness.industryAnimallcsh:RRickettsia massiliae; Scalp Eschar; LymphadenopathyAlopeciascalp eschar and neck lymphadenopathybiology.organism_classificationSpotted feverRickettsiaScalpLymphatic Diseasebusinesseschar
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