Sökning: WFRF:(Berg Stefan 1959) > Rash and Fever sinc...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 02830naa a2200337 4500 | |
001 | oai:gup.ub.gu.se/284588 | |
003 | SwePub | |
008 | 240528s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/2845882 URI |
024 | 7 | a https://doi.org/10.1007/978-3-030-21262-9_1022 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a vet2 swepub-contenttype |
072 | 7 | a kap2 swepub-publicationtype |
100 | 1 | a Berg, Stefan,d 1959u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xbeste |
245 | 1 0 | a Rash and Fever since Two Weeks of Age :b Chapter 102 |
264 | c 2019-10-09 | |
264 | 1 | a Cham :b Springer Nature,c 2019 |
520 | a Cryopyrin-associated periodic syndrome (CAPS) is an umbrella term today used for three formerly described conditions in order of increasing severity familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurologic cutaneous and articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID) CAPS is an autosomal dominant disease that starts early in life Mutations in CAPS give rise to a gain-of-function in the NLRP3 inflammasome Somatic mosaicism should be considered in patients with clinical CAPS and no mutation detected in the NLRP3 with Sanger sequencing CAPS is characterized by a varying degree of systemic inflammation, urticaria-like rash, musculoskeletal symptoms, and a risk of amyloidosis and neurologic sequelae Treatment with IL-1 blockade is generally very effective in CAPS | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng |
653 | a Cryopyrin-associated periodic syndrome | |
653 | a NLRP3 | |
653 | a Muckle-Wells syndrome | |
700 | 1 | a Fasth, Anders,d 1945u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xfasan |
700 | 1 | a Wekell, Peru Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xwekpe |
710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
773 | 0 | t Pediatric Immunology. A Case-Based Collection with MCQs. Rezaei, N. (red.)d Cham : Springer Natureg , s. 539-543q <539-543z 9783030212629 |
856 | 4 8 | u https://gup.ub.gu.se/publication/284588 |
856 | 4 8 | u https://doi.org/10.1007/978-3-030-21262-9_102 |
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