Sökning: WFRF:(Berg Stefan 1959) > Sudden Dizziness, S...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 02721naa a2200301 4500 | |
001 | oai:gup.ub.gu.se/284623 | |
003 | SwePub | |
008 | 240528s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/2846232 URI |
024 | 7 | a https://doi.org/10.1007/978-3-030-21262-9_1112 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 Sudden Dizziness, Somnolence and Diplopia :b Chapter 111 |
264 | c 2019-10-09 | |
264 | 1 | a Cham :b Springer Nature,c 2019 |
520 | a Deficiency of adenosine deaminase 2 (DADA2) is a autosomal recessive disease caused by mutations in CECR1 Mutations in CECR1 cause a deficiency of the enzyme adenosine deaminase type 2 (ADA2) DADA2 phenotype has a wide spectrum and is characterized by the presence of three main features: (1) vascular inflammation, (2) immunodeficiency, and (3) coagulopathy, that may or may not overlap in the individual patient The vascular-inflammatory manifestations include livedo reticularis/racemosa, stroke, vasculitis, recurrent fever episodes and increased inflammatory markers The risk for stroke is high in DADA2 The phenotype may be almost indistinguishable to polyarteritis nodosa (PAN) TNF-blockade is an effective treatment for the vasculitis and inflammatory manifestations Patients with severe disease especially with hematological manifestations and immunodeficiency may benefit from HSCT | |
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 |
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 |
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 |
710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
773 | 0 | t Pediatric Immunology. A Case-Based Collection with MCQs.d Cham : Springer Natureg , s. 603-609q <603-609z 9783030212629 |
856 | 4 8 | u https://gup.ub.gu.se/publication/284623 |
856 | 4 8 | u https://doi.org/10.1007/978-3-030-21262-9_111 |
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