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hyper-gamma-globulinemia (8) 8
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index medicus (6) 6
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aortic diseases/genetics; aortic diseases/immunology; arthritis, juvenile/diagnosis; arthritis, juvenile/immunology; autoimmune diseases/diagnosis; autoimmune diseases/genetics; autoimmune diseases/immunology; autoimmune diseases/therapy; autoimmune diseases of the nervous system/diagnosis; autoimmune diseases of the nervous system/immunology; dental enamel hypoplasia/genetics; dental enamel hypoplasia/immunology; homozygote; humans; interferon type i/genetics; interferon type i/immunology; lupus erythematosus, systemic/diagnosis; lupus erythematosus, systemic/genetics; lupus erythematosus, systemic/immunology; metacarpus/abnormalities; metacarpus/immunology; muscular diseases/genetics; muscular diseases/immunology; mutation/genetics; mutation/immunology; nervous system malformations/diagnosis; nervous system malformations/immunology; odontodysplasia/genetics; odontodysplasia/immunology; osteochondrodysplasias/genetics; osteochondrodysplasias/immunology; osteoporosis/genetics; osteoporosis/immunology; proteome/genetics; proteome/immunology; rare diseases/diagnosis; rare diseases/immunology; rare diseases/therapy; signal transduction; vascular calcification/genetics; vascular calcification/immunology (1) 1
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2011, Volume 108, Issue 36, pp. 14914 - 14919
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 10/2011, Volume 121, Issue 10, pp. 4150 - 4160
Journal Article
Clinical & Experimental Immunology, ISSN 0009-9104, 03/2012, Volume 167, Issue 3, pp. 391 - 404
OTHER THEMES PUBLISHED IN THIS IMMUNOLOGY IN THE CLINIC REVIEW SERIES Allergy, Host Responses, Cancer, Type 1 diabetes and viruses, Metabolic diseases. Summary... 
CANDLE | DIRA | CAPS | neonatal disorder | NOMID | Neonatal disorder | GENERALIZED PUSTULAR PSORIASIS | HYPER-GAMMA-GLOBULINEMIA | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | ATYPICAL NEUTROPHILIC DERMATOSIS | ENCODING MEVALONATE KINASE | AICARDI-GOUTIERES-SYNDROME | FAMILIAL MEDITERRANEAN FEVER | RECEPTOR ANTAGONIST ANAKINRA | ONSET STILLS-DISEASE | MULTISYSTEM INFLAMMATORY DISEASE | Cryopyrin-Associated Periodic Syndromes - immunology | Interleukin 1 Receptor Antagonist Protein - immunology | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Inflammatory Bowel Diseases - immunology | Hereditary Autoinflammatory Diseases - immunology | Cryopyrin-Associated Periodic Syndromes - therapy | Interleukins - genetics | Models, Immunological | Animals | Interleukins - immunology | Inflammatory Bowel Diseases - genetics | Interleukin-1 - immunology | Cytokines - antagonists & inhibitors | Interleukin-1 - antagonists & inhibitors | Hereditary Autoinflammatory Diseases - therapy | Receptors, Interleukin-1 - antagonists & inhibitors | Carrier Proteins - immunology | Cytokines - immunology | Hereditary Autoinflammatory Diseases - genetics | Type 2 diabetes | Rheumatoid factor | Genetic disorders | Interleukins | Type 1 diabetes | Rheumatoid arthritis | Skin diseases | Coronary heart disease | Drug approval | Cardiovascular disease | Metabolic disorders | Diabetes | Review
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 12/2010, Volume 87, Issue 6, pp. 866 - 872
We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive auto-inflammatory syndrome... 
COMPLEX | HYPER-GAMMA-GLOBULINEMIA | IMMUNOPROTEASOME | DNA | GENETICS & HEREDITY | MICE | INFECTION | LMP7 | MUSCULAR-ATROPHY | CLEAVAGE
Journal Article
Pediatric Rheumatology, ISSN 1546-0096, 06/2016, Volume 14, Issue 1, p. 35
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a... 
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | ALPHA MONOCLONAL-ANTIBODY | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HYPER-GAMMA-GLOBULINEMIA | RHEUMATOLOGY | MUSCULAR-ATROPHY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | PROTEASOME SUBUNIT | PEDIATRICS | PHASE-I | IFN-ALPHA | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors
Journal Article
ARTHRITIS AND RHEUMATISM, ISSN 0004-3591, 03/2012, Volume 64, Issue 3, pp. 895 - 907
Objective Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently... 
IMMUNOPROTEASOMES | SURVIVAL | HYPER-GAMMA-GLOBULINEMIA | AUTOINFLAMMATORY DISEASES | MICROCYTIC ANEMIA | JOINT CONTRACTURES | RHEUMATOLOGY | MUSCULAR-ATROPHY | PROTEINS
Journal Article
Journal Article
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