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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 Article
The Journal of Pediatrics, ISSN 0022-3476, 11/2018, Volume 202, pp. 179 - 185.e4
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 8/2017, Volume 37, Issue 6, pp. 592 - 602
Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor... 
Medical Microbiology | CVID | infection | fatigue | Biomedicine | Immunology | Common variable immunodeficiency | autoimmunity | inflammation | Infectious Diseases | Internal Medicine | USIDNET | PHENOTYPES | PREVALENCE | IMMUNOLOGY | CHILDREN | DISEASE | HEALTH | CELL | IMMUNODEFICIENCY | BLOOD | Autoimmunity | United States - epidemiology | Arthritis - physiopathology | Depression - physiopathology | Arthritis - epidemiology | Bronchitis - epidemiology | Humans | Middle Aged | Child, Preschool | Male | Otitis Media - physiopathology | Young Adult | Common Variable Immunodeficiency - epidemiology | Aged, 80 and over | Adult | Female | Retrospective Studies | Child | Failure to Thrive - physiopathology | Databases, Factual | Developmental Disabilities - physiopathology | Depression - epidemiology | Bronchitis - physiopathology | Developmental Disabilities - epidemiology | Phenotype | Cell Transformation, Neoplastic | Adolescent | Age of Onset | Failure to Thrive - epidemiology | Common Variable Immunodeficiency - physiopathology | Aged | Otitis Media - epidemiology | Longitudinal Studies | Pediatrics | Medical research | Analysis | Immunoglobulin G | Medicine, Experimental | Respiratory tract diseases | Fatigue | Adults | Immunoglobulin A | Health aspects | Immunoglobulin M | Vaccination | Prophylaxis | Arthritis | Hypogammaglobulinemia | Malignancy | Antibody response | Bronchitis | Children | Age | Immunoglobulins | Statistical analysis | Lung diseases | Lymphoma | Computer programs | Antibiotics | Otitis media | Autoimmune diseases | Health risk assessment
Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 09/2012, Volume 46, Issue 3, pp. 394 - 399
Introduction: RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the... 
muscle force | neurofibromatosis | cardiofaciocutaneous syndrome | Noonan syndrome | RASopathy | Costello syndrome | Cardiofaciocutaneous syndrome | Muscle force | Neurofibromatosis | GRIP-STRENGTH | COSTELLO | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | ras Proteins - genetics | Humans | Middle Aged | Noonan Syndrome - physiopathology | Child, Preschool | ras Proteins - metabolism | Male | Muscle, Skeletal - metabolism | Neurofibromatosis 1 - physiopathology | Muscle Weakness - genetics | Ectodermal Dysplasia - physiopathology | Heart Defects, Congenital - genetics | Ectodermal Dysplasia - metabolism | MAP Kinase Signaling System - genetics | Facies | Adult | Female | Neurofibromatosis 1 - metabolism | Neurofibromatosis 1 - genetics | Child | Failure to Thrive - physiopathology | Costello Syndrome - physiopathology | Failure to Thrive - genetics | Noonan Syndrome - genetics | Costello Syndrome - genetics | Costello Syndrome - metabolism | Muscle, Skeletal - physiopathology | Noonan Syndrome - metabolism | Adolescent | Failure to Thrive - metabolism | Muscle Weakness - metabolism | Ectodermal Dysplasia - genetics | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Muscle Weakness - physiopathology | Hand Strength - physiology | Analysis | Genetic disorders | Medical genetics
Journal Article