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Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype
Journal Article
International Immunology, ISSN 0953-8178, 2012, Volume 24, Issue 6, pp. 347 - 356
Journal Article
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 07/2019, Volume 7, p. 277
Objective: To show the different physician's approaches and the difficulties in the diagnosis and management of the Periodic Fever, Aphthous Stomatitis,... 
DIAGNOSIS | diagnostic criteria | differential diagnosis | diagnostic delay | PFAPA | children | autoinflammatory diseases | PEDIATRICS | Care and treatment | Stomatitis | Practice | Research | Lymphadenitis | Rheumatologists | Hyperthermia | Fever | Diagnosis | Children | Pediatric research | Hereditary autoinflammatory diseases | Diseases
Journal Article
Pediatrics, ISSN 0031-4005, 10/2009, Volume 124, Issue 4, pp. e721 - e728
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 164, Issue 6, pp. 1475 - 1480.e2
Journal Article
Cancer Letters, ISSN 0304-3835, 2013, Volume 337, Issue 2, pp. 184 - 192
Highlights • Focus on circulating dendritic cells (DCs) and DC generation from monocytes in melanoma. • A significant decrease in the absolute number of total... 
Hematology, Oncology and Palliative Medicine | Circulating dendritic cells | Generation of dendritic cells | Immunotherapy | Melanoma | MULTIPLE-MYELOMA | STAGE BREAST-CANCER | TUMOR | PERIPHERAL-BLOOD | MECHANISMS | ADVANCED CANCER-PATIENTS | IDENTIFICATION | ONCOLOGY | IMMUNE SUPPRESSION | REGULATORY T-CELLS | SUPPRESSOR-CELLS | Mannose-Binding Lectins - metabolism | Tumor Escape | Cell Count | Coculture Techniques | Dendritic Cells - immunology | Humans | Middle Aged | Dendritic Cells - pathology | Fluorescein-5-isothiocyanate - metabolism | Male | Monocytes - metabolism | Monocytes - immunology | Case-Control Studies | Lymphocyte Culture Test, Mixed | Lectins, C-Type - metabolism | Endocytosis | Time Factors | Cell Shape | Monocytes - pathology | Adult | Female | Dendritic Cells - metabolism | Dextrans - metabolism | Skin Neoplasms - pathology | Skin Neoplasms - immunology | Skin Neoplasms - therapy | Lymphocyte Activation | Down-Regulation | Cells, Cultured | Receptors, Cell Surface - metabolism | Fluorescein-5-isothiocyanate - analogs & derivatives | Disease Progression | Melanoma - secondary | Phenotype | Melanoma - immunology | T-Lymphocytes - immunology | Aged | Melanoma - therapy | Neoplasm Staging | Phagocytosis | Lymphatic system | Disease | Pathogenesis | Breast cancer | Metastasis | Cancer therapies | Tumors
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1700
Chronic spontaneous urtcaria (CSU) can represent the leading sign of a wide spectrum of systemic diseases, including primary immunodeficiencies. We describe... 
IgE (immunoglobulin E) | DIAGNOSIS | ANTIINFLAMMATORY ACTIVITY | AUTOIMMUNITY | chronic urticaria | CONSENSUS | omalizumab | common variable immunodeficiency | IMMUNOLOGY | intravenous immunoglobulin
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2018, Volume 6, p. 90
We describe the case of a 3-year child in which pancreatic and parotid gland involvement preceded the development of the classical clinical phenotype of a... 
Parotitis | Kawasaki disease | Fever of unknown origin | Hyperamylasemia | Pancreatitis | fever of unknown origin | PEDIATRICS | pancreatitis | parotitis | hyperamylasemia | Parotid glands | Care and treatment | Research | Diagnosis
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 08/2017, Volume 5, p. 179
Primary immune thrombocytopenia (ITP) is the most common cause of thrombocytopenia in children and adolescents and can be considered as a paradigmatic model of... 
New therapeutic targets | Chronic thrombocytopenia | Differential diagnosis | Immune thrombocytopenia | Diagnostic algorithm | Conventional therapy | diagnostic algorithm | differential diagnosis | conventional therapy | new therapeutic targets | chronic thrombocytopenia | immune thrombocytopenia
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2018, Volume 6, p. 144
Journal Article