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Lancet, The, ISSN 0140-6736, 2017, Volume 389, Issue 10072, pp. 909 - 916
Journal Article
Journal Article
NeuroImage, ISSN 1053-8119, 11/2014, Volume 101, pp. 390 - 403
Journal Article
Human Brain Mapping, ISSN 1065-9471, 01/2017, Volume 38, Issue 1, pp. 12 - 26
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
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
EMBO Journal, ISSN 0261-4189, 2018, Volume 37, Issue 23, p. n/a
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 06/2019, Volume 143, Issue 6, pp. 2296 - 2299
To the Editor: Recently, a novel syndrome of combined immunodeficiency, allergy, and “auto”inflammation caused by mutations in the ARPC1B gene has been... 
Erysipelas | Phenotypes | Molluscum contagiosum | Bronchopneumonia | Hypersensitivity | Immunodeficiency | Polymerization | Mollusks | Infections | Arthritis | Patients | Allergies | Defects | Hemopoiesis | Respiratory tract | Warts | Actin | Lymphocytes | Abscesses | Respiratory tract diseases | Growth hormones | Skin | Mutation | Viral infections
Journal Article