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Sudden Dizziness, S...
Sudden Dizziness, Somnolence and Diplopia : Chapter 111
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- Berg, Stefan, 1959 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Wekell, Per (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Fasth, Anders, 1945 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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(creator_code:org_t)
- 2019-10-09
- 2019
- Engelska.
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs.. - Cham : Springer Nature. - 9783030212629 ; , s. 603-609
- Relaterad länk:
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Abstract
Ämnesord
Stäng
- 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
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
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- kap (ämneskategori)
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