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Clinical & Experimental Immunology, ISSN 0009-9104, 02/2019, Volume 195, Issue 2, pp. 202 - 212
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
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 | Index Medicus | Abridged Index Medicus
Journal Article
Blood, ISSN 0006-4971, 01/2011, Volume 117, Issue 1, pp. 53 - 62
Journal Article
Haematologica, ISSN 0390-6078, 07/2015, Volume 100, Issue 7, pp. 978 - 988
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify... 
DEFECTS | CHRONIC GRANULOMATOUS-DISEASE | MACROPHAGE ACTIVATION SYNDROME | BONE-MARROW | PERFORIN | HEMATOLOGY | CYTOTOXICITY | DEFICIENCY | TRANSPLANTATION | MANIFESTATIONS | DELETION | Lymphohistiocytosis, Hemophagocytic - pathology | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Virus Diseases - complications | Virus Diseases - drug therapy | T-Lymphocytes - drug effects | Opportunistic Infections - immunology | Immunologic Deficiency Syndromes - immunology | Child | Infant, Newborn | Lymphohistiocytosis, Hemophagocytic - immunology | Opportunistic Infections - complications | Leishmaniasis - immunology | Virus Diseases - immunology | Bacterial Infections - drug therapy | Lymphohistiocytosis, Hemophagocytic - drug therapy | Europe | Lymphohistiocytosis, Hemophagocytic - diagnosis | Terminology as Topic | Leishmaniasis - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Mycoses - drug therapy | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - drug therapy | Killer Cells, Natural - drug effects | Mycoses - complications | Mycoses - immunology | Infant | Killer Cells, Natural - pathology | Lymphoproliferative Disorders - immunology | Bacterial Infections - complications | Bacterial Infections - immunology | Killer Cells, Natural - immunology | Adult | Female | Registries | Steroids - therapeutic use | T-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Diagnosis, Differential | Immunologic Deficiency Syndromes - complications | Lymphoproliferative Disorders - diagnosis | Opportunistic Infections - drug therapy | Lymphoproliferative Disorders - drug therapy | Leishmaniasis - complications | Immunologic Factors - therapeutic use
Journal Article
Journal Article
Klinische Pädiatrie, ISSN 0300-8630, 11/2010, Volume 222, Issue 6, pp. 345 - 350
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6
Journal Article
Clinical & Experimental Immunology, ISSN 0009-9104, 02/2019, Volume 195, Issue 2, pp. 202 - 212
Journal Article
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 03/2017, Volume 31, Issue 3, pp. e147 - e148
Journal Article
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 03/2017, Volume 31, Issue 3, pp. e147 - e148
Journal Article
Clinical & Experimental Immunology, ISSN 0009-9104, 10/2015, Volume 182, Issue 1, pp. 45 - 50
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 03/2016, Volume 75, Issue 3, pp. 481 - 489
Journal Article
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 03/2016, Volume 68, Issue 3, pp. 566 - 576
Objective To develop criteria for the classification of macrophage activation syndrome (MAS) in patients with systemic juvenile idiopathic arthritis (JIA).... 
MULTICENTER | RHEUMATOLOGY | DIAGNOSTIC-SIGNIFICANCE | LYMPHOHISTIOCYTOSIS | GUIDELINES | CHILDREN | Macrophage Activation Syndrome - diagnosis | Diagnosis, Differential | Humans | Arthritis, Juvenile - complications | Macrophage Activation Syndrome - classification | Logistic Models | Internet | Consensus | Experts | Patients | Classification | Rheumatology
Journal Article