Sahlgrenska Universitetssjukhuset

Diagnoslista/länkar

Listor över diagnoser som expertteamet ansvarar för.

Lista/länkar till diagnosbeskrivningar

Stämmer diagnoslistan? Något som ska tas bort/läggas till?
Finns fler diagnosbeskrivningar vi kan länka till? (i första hand Socialstyrelsens kunskapsdatabas, men länkar till andra sidor går också bra)
Möjlighet finns att dela upp listan till flera kortare utefter de olika grupperingarna av sjukdomar.
Länkarna kommer snyggas till innan publicering.

Autoinflammatoriska sjukdomar

Defects affecting the inflammasome

  • APLAID (autoinflammation and PLCγ2 associated antibody deficiency and immune dysregulation)
  • Cryopyrin-associated periodic syndromes (CAPS) E85.0
  • NLRC4-MAS (macrophage activating syndrome) Familial cold autoinflammatory syndrome 4
  • Neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular syndrome (CINCA)
  • Familial cold autoinflammatory syndrome 1
  • Familial cold autoinflammatory syndrome 2
  • Muckle-Wells syndrome
  • Mevalonate kinase deficiency (Hyper IgD syndrome)
  • Familial Mediterranean Fever https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/familjar-medelhavsfeber/ 

Non inflammasome-related conditions

  • Recurrent idiopathic pericarditis
  • SAPHO Syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis)
  • Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/pfapa/ 
  • Outulin deficiency
  • Familial cold autoinflammatory syndrome-2 (FCAS2) E85.0
  • Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)
  • Chronic recurrent multifocal osteomyelitis (CRMO)
  • COPA defect
  • ADA2 deficiency
  • Cherubism
  • CAMPS (CARD14 mediated psoriasis)
  • SLC29A3 mutation (H syndrome)
  • DITRA – Deficiency of IL-36 receptor antagonist
  • Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
  • DIRA (Deficiency of the Interleukin 1 Receptor Antagonist)
  • ADAM17 deletion
  • Blau syndrome
  • Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome
  • TNF receptor-associated periodic syndrome (TRAPS)

Type 1 Interferonopathies

  • Autosomal recessive Systemic Lupus Erythematous
  • CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy
  • STING–associated vasculopathy, infantileonset
  • Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)
  • Aicardi-Goutieres syndrome 7 (AGS7)
  • ADAR1 deficiency, AGS6
  • Familial chillblain lupus 2
  • SAMHD1 deficiency, AGS5
  • RNASEH2A deficiency, AGS4
  • RNASEH2C deficiency, AGS3
  • RNASEH2B deficiency, AGS2
  • Familial chillblain lupus 1
  • TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)

Monogenic Inflammatory bowel diseases

  • NFAT5 haploinsufficiency
  • IL-10Rβ deficiency
  • IL-10Rα deficiency
  • IL-10 deficienc

Miscellaneous

Autoimmuna sjukdomar

Autoimmune systemic vasculitis adult and paediatric

Autoimmune Neuroinflammation Adult and Paediatric

Reumatiska sjukdomar hos barn

Bone disease

Juvenile Arthritis

  • Pigmented villonodular synovitis
  • Juvenile psoriatic arthritis
  • JIA unclassified
  • Systemic JIA
  • JIA subtype polyarticular JIA – RF negative
  • JIA subtype polyarticular JIA – RF positive
  • JIA subtype extended oligoarticular JIA
  • JIA subtype juvenile spondyloarthritis/enthesitis related arthritis (Spa-Era)
  • Juvenile Idiopathic Arthritis (JIA) subtype oligoarticular JIA

Paediatric vasculitis

  • Rare Paediatric vasculitis
  • IgA vasculitis (HSP)
  • Kawasaki disease

Miscellaneous

  • Juvenile non infectious uveitis
  • Macrophage activation syndrome

Systemic autoimmune