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FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 03/2019, Volume 10, p. 479
Background: HOIP is the catalytic subunit of the linear ubiquitination chain assembly complex (LUBAC) that is essential for NF-kappa B signaling and thus... 
CVID | ACTIVATION | SHARPIN | AMYLOPECTINOSIS | primary immunodeficiency | autoinflammation | HUMANS | IMMUNOLOGY | HOIL1 | LUBAC | IMMUNODEFICIENCY | HOIP
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
Science, ISSN 0036-8075, 08/2018, Volume 361, Issue 6404, pp. 756 - 757
Advances in genomic technologies have revealed the genetic basis of an increasing list of human primary immune deficiencies (PID) as well as autoinflammatory... 
APOPTOSIS | HOMEOSTASIS | AMYLOPECTINOSIS | NECROPTOSIS | MULTIDISCIPLINARY SCIENCES | LUBAC DEFICIENCY | DEATH | IMMUNODEFICIENCY | AUTOINFLAMMATION | HOIP | Ubiquitin | NF-κB protein | Threonine | Immunodeficiency | Inflammation | Kinases | Patients | Inflammatory diseases | Proteins | Signal transduction | Signaling | Cell death | Protein kinase | Heme | Transduction | Mutation | Ubiquitin-protein ligase | Apoptosis
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2017, Volume 214, Issue 7, pp. 1937 - 1947
Journal Article
Journal Article
Current Molecular Medicine, ISSN 1566-5240, 03/2002, Volume 2, Issue 2, pp. 177 - 188
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a... 
Andersen disease | glycogen storage disease IV | glycogen branching enzyme | amylopectinosis | polyglucosan body disease
Journal Article
by Kolb, E
TIERARZTLICHE UMSCHAU, ISSN 0049-3864, 11/2003, Volume 58, Issue 11, pp. 599 - 604
The development of Monday Morning Disease is associated with an abnormally great accumulation of glycogen and other polysaccharides in the muscles of the hind... 
TYING-UP | DRAFT | mitochondria | glycolysis | ATP-production | MYOPATHY | EXERTIONAL RHABDOMYOLYSIS | EXERCISE | muscle-function | ceroid-lipofuscinosis | myoglobinuria | VETERINARY SCIENCES | amylopectinosis | lactate | BREEDS | equine polysaccharide myopathy | respiratory chain
Journal Article
Journal Article
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 1993, Volume 152, Issue 1, pp. S71 - S76
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage... 
Types I and IV glycogen storage disease | Amylopectinosis | Types I and IV glycogen storage-disease | Liver transplantation | IMMUNOSUPPRESSANT FK506 | LIVER TRANSPLANTATION | PEDIATRICS | AMYLOPECTINOSIS | PEPTIDYL-PROLYL ISOMERASE | TYPE-I AND TYPE-IV GLYCOGEN STORAGE DISEASE
Journal Article
Zeitschrift für Kinderheilkunde, ISSN 0340-6199, 09/1974, Volume 117, Issue 3, pp. 187 - 203
Journal Article
Book Chapter
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