X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (16) 16
humans (13) 13
female (10) 10
mutation (10) 10
inflammation (9) 9
male (9) 9
child (7) 7
rheumatology (7) 7
abridged index medicus (6) 6
adolescent (6) 6
adult (6) 6
article (6) 6
patients (6) 6
phenotype (6) 6
disease (5) 5
immunology (5) 5
age of onset (4) 4
child, preschool (4) 4
cytokines (4) 4
lupus (4) 4
mutations (4) 4
skin (4) 4
stroke (4) 4
adenosine (3) 3
age (3) 3
arthritis (3) 3
autoimmune diseases (3) 3
autoinflammatory disease (3) 3
children (3) 3
diseases of the musculoskeletal system (3) 3
familial mediterranean fever (3) 3
fever syndromes (3) 3
gene mutations (3) 3
genes (3) 3
genetic aspects (3) 3
genotype (3) 3
genotype & phenotype (3) 3
hereditary autoinflammatory diseases - genetics (3) 3
inflammatory diseases (3) 3
internal medicine (3) 3
kinases (3) 3
low-density granulocytes (3) 3
macrophages (3) 3
middle aged (3) 3
pediatrics (3) 3
pedigree (3) 3
proteins (3) 3
severity of illness index (3) 3
systemic lupus erythematosus (3) 3
tnf inhibitors (3) 3
tumor necrosis factor (3) 3
tumor necrosis factor-tnf (3) 3
vasculopathy (3) 3
young adult (3) 3
aa amyloidosis (2) 2
acne (2) 2
adenosine deaminase (2) 2
adenosine deaminase - deficiency (2) 2
adenosine deaminase - genetics (2) 2
alleles (2) 2
allergy (2) 2
anakinra (2) 2
anemia (2) 2
autoinflammation (2) 2
biologic medications (2) 2
biopsy (2) 2
bone marrow (2) 2
canakinumab (2) 2
consanguinity (2) 2
enzymes (2) 2
epidemiologia (2) 2
epidemiology (2) 2
exome - genetics (2) 2
fibroblasts (2) 2
flow cytometry (2) 2
gangrene (2) 2
genetic predisposition to disease (2) 2
granulocytes (2) 2
health aspects (2) 2
hereditary autoinflammatory diseases - enzymology (2) 2
hereditary autoinflammatory diseases - metabolism (2) 2
hospitals (2) 2
hyperimmunoglobulinemia-d (2) 2
il-1β (2) 2
immunoblotting (2) 2
immunodeficiency (2) 2
infectious diseases (2) 2
inflamació (2) 2
inflammatory bowel disease (2) 2
intercellular signaling peptides and proteins - deficiency (2) 2
intercellular signaling peptides and proteins - genetics (2) 2
juvenile idiopathic arthritis (2) 2
leukocytes (2) 2
lupus erythematosus, systemic - blood (2) 2
management (2) 2
medicina interna (2) 2
medicine, general & internal (2) 2
netting neutrophils (2) 2
neutrophils (2) 2
neutrophils - metabolism (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 10, pp. 911 - 920
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 48, Issue 1, pp. 67 - 73
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1337 - 1345
Background Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the... 
Allergy and Immunology | phenotype | proline-serine-threonine phosphatase-interacting protein 1 | S100 proteins | calprotectin | myeloid-related protein 8/14 | autoinflammation | pyogenic arthritis, pyoderma gangrenosum, and acne syndrome | Hyperzincemia and hypercalprotectinemia | zinc | genotype | pyogenic arthritis | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | PAPA SYNDROME | RECEPTOR 4 | ZINC-METABOLISM | IN-VITRO | INTERFERON-GAMMA | ALLERGY | pyoderma gangrenosum, and acne syndrome | PYODERMA-GANGRENOSUM | GENE-EXPRESSION | T-CELLS | Phosphorylation | Protein Binding - genetics | Calgranulin A - metabolism | Cytoskeletal Proteins - genetics | Humans | Leukocyte L1 Antigen Complex - metabolism | Protein Multimerization | Male | Calgranulin A - genetics | Metal Metabolism, Inborn Errors - immunology | Mutation, Missense - genetics | Young Adult | Cytoskeletal Proteins - metabolism | Female | Child | Metal Metabolism, Inborn Errors - genetics | Alarmins - genetics | Cytokines - metabolism | Alarmins - metabolism | Genotype | Pyrin | Phenotype | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Leukocyte L1 Antigen Complex - genetics | Adaptor Proteins, Signal Transducing - metabolism | Proline | Phosphatases | Hospitals | Analysis | Disease | Cytokines | Laboratories | Acne | Mortality | Arthritis | Inflammation | Phosphatase | Inflammatory diseases | Proteins | Genotype & phenotype | Skin | Mutation | myeloid-related protein 8 | pyoderma gangrenosum | and acne syndrome
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 12/2018, Volume 77, Issue 12, pp. 1825 - 1833
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 09/2017, Volume 69, Issue 9, pp. 1832 - 1839
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2017, Volume 76, Issue 5, pp. 821 - 830
Journal Article