| 1. |
- Berg, Stefan, 1959, et al.
(författare)
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Autoinflammatory disorders
- 2008
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Ingår i: Primary Immunodeficiency Diseases Definition, Diagnosis and Management. - Berlin, Heidelberg : Springer-Verlag. - 9783540785378
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 2. |
- Berg, Stefan, 1959, et al.
(författare)
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Autoinflammatory Disorders
- 2016
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Ingår i: Primary Immunodeficiency Diseases. - Berlin, Heidelberg : Springer. - 9783662529096 ; , s. 393-435
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Bokkapitel (refereegranskat)
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| 3. |
- Berg, Stefan, 1959, et al.
(författare)
-
Autoinflammatory disorders
- 2017
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Ingår i: Primary Immunodeficiency Diseases. Definition, Diagnosis, and Management, 2nd ed.. - Berlin, Germany : Springer. - 9783662529072
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Berg, Stefan, 1959, et al.
(författare)
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Irregular Recurrent Fever : Chapter 113
- 2019
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212629 ; , s. 617-621
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Non-classifiable periodic fever syndromes are common Patients may have recurrent fevers or continuous chronic inflammation, together with different combinations of arthralgia/arthritis, mouth ulcers, lymphadenopathies, conjunctivitis, rashes, pleuritic pain, splenomegaly, hepatomegaly and abdominal pain Inheritance varies from no apparent pattern to autosomal dominant inheritance Many patients respond to colchicine as a reasonable first-line treatment
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| 5. |
- Berg, Stefan, 1959, et al.
(författare)
-
Long Episodes of Rash and Fever : Chapter 100
- 2019
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Ingår i: Pediatric Immunology : A Case-Based Collection with MCQs, Volume 2. Rezaei, N. (red.). - Switzerland AG : Springer Nature. - 9783030212629 ; , s. 527-531
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 6. |
- Berg, Stefan, 1959, et al.
(författare)
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Rash and Fever since Two Weeks of Age : Chapter 102
- 2019
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Rezaei, N. (red.). - Cham : Springer Nature. - 9783030212629 ; , s. 539-543
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- 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
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| 7. |
- Berg, Stefan, 1959, et al.
(författare)
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Sudden Dizziness, Somnolence and Diplopia : Chapter 111
- 2019
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs.. - Cham : Springer Nature. - 9783030212629 ; , s. 603-609
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- 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
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| 8. |
- Rydenman, Karin, 1982, et al.
(författare)
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Chapter 104. Recurrent Fever and Sore Throat
- 2019
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Rezaei N. (red.). - Cham : Springer. - 9783030212612 ; , s. 553-559
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 9. |
- Wekell, Per, et al.
(författare)
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Autoinflammatory disorders
- 2012
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Ingår i: Aghamohammadi A, Rezaei N (eds). Clinical Cases in Primary Immunodeficiency Diseases 2012 .A Problem-Solving Approach. - Berlin Heidelberg : Springer. - 9783642317842 ; , s. 309-323
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Abstract Originally, autoinflammatory diseases were defined as conditions characterized by seemingly unprovoked episodes of inflammation, without high titres of autoantibodies or antigen-specific T-cells [1]. Recently, a new definition has been proposed in which autoinflammatory diseases are defined as “clinical disorders marked by abnormally increased inflammation, mediated predominantly by cells and molecules of the innate immune system, with a significant host predisposition [2].” These patients experience lifelong recurrent episodes of inflammation, associated with fever in most cases and other symptoms such as malaise, arthralgia, abdominal pain, and skin rash. Between the episodes, the patients often are free of symptoms [3].
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| 10. |
- Wekell, Per, et al.
(författare)
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Periodic Fever Syndrome and Developmental Delay : Chapter 98
- 2019
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212612 ; , s. 515-519
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- The key to diagnosis of mevalonate kinase deficiency, hyper-IgD syndrome (MKD/HIDS) is recurrent fever attacks of 4–6 days, associated with aphthous stomatitis, enlargement of lymph nodes, splenomegaly, abdominal pain, diarrhea, and rash MKD is a rare autosomal recessive disease caused by mutations in the MVK gene leading to reduced mevalonate kinase activity Extremely low MVK activity leads to mevalonic aciduria (complete MKD or MVA) associated with developmental delay, progressive ataxia and decreased life expectancy in addition to febrile attacks Treatment depends on the severity of the condition and includes: on demand treatment with glucocorticoids on demand or continuous treatment with IL-1 blockade allogeneic hematopoietic stem cell transplantation in mevalonic aciduria In partial MKD/HIDS, episodes often decrease in severity with age
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