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2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
.... It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases... 
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
Pediatric rheumatology online journal, ISSN 1546-0096, 2016, Volume 14, Issue 1, p. 35
.... Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases... 
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
Gut, ISSN 0017-5749, 01/2018, Volume 67, Issue 1, pp. 108 - 119
... with a decrease in the genus Roseburia in the gut microbiota of healthy controls without gut complaints. Disease localisation is a major determinant of the IBD-associated gut... 
BACTERIA | CROHNS-DISEASE | VARIANTS | RARE | GENOTYPE | ULCERATIVE-COLITIS | RISK | LOCI | ASSOCIATION | BACTERIAL INTERACTIONS | INFLAMMATORY BOWEL DISEASE | GENETICS | INTESTINAL BACTERIA | CROHNS | GASTROENTEROLOGY & HEPATOLOGY | Severity of Illness Index | Crohn Disease - genetics | Risk Assessment - methods | Genetic Predisposition to Disease | Humans | Middle Aged | Colitis, Ulcerative - genetics | Male | Colitis, Ulcerative - pathology | Dysbiosis - complications | Dysbiosis - microbiology | Gastrointestinal Microbiome - genetics | Case-Control Studies | Feces - microbiology | Colitis, Ulcerative - microbiology | Dysbiosis - genetics | Host-Pathogen Interactions - genetics | Crohn Disease - pathology | Inflammatory Bowel Diseases - pathology | Inflammatory Bowel Diseases - genetics | Adult | Crohn Disease - microbiology | Female | Inflammatory Bowel Diseases - microbiology | Inflammatory bowel diseases | Care and treatment | Genetic aspects | Research | Microbiota (Symbiotic organisms) | Genetic variation | Phenotypes | Bacterial infections | Breastfeeding & lactation | rRNA 16S | Pathogenesis | Genomes | Inflammation | Crohn's disease | Family medical history | Crohns disease | Inflammatory bowel disease | Genetic variance | Microbiota | Antibiotics | Intestine | Gastroenterology | Peripheral blood | Genetics | Gene loci | Colon | Endoscopy | Acetic acid | NOD2 protein | Gut microbiota | Healthy controls | Host genetics
Journal Article
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 20 - 20
Journal Article
Nature (London), ISSN 1476-4687, 2009, Volume 461, Issue 7265, pp. 747 - 753
Journal Article