Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autoinflammatory disease

The group of chronic (auto)inflammation are genetic disorders in which disturbances of the regulation of inflammatory process leads to chronic inflammation that may result in various late onset complications.

Systematic

Hereditary immunological disorders
Atopy
Autoimmune disease
Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
NLRP1
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
WDR1
Cherubism
SH3BP2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A
Familiäres kälteinduziertes autoinflammatorisches Syndrom
Familial cold autoinflammatory syndrome 1
NLRP3
Familial cold autoinflammatory syndrome 2
NLRP12
Familial cold autoinflammatory syndrome 3
PLCG2
Familial cold autoinflammatory syndrome 4
NLRC4
Hereditary pediatric Behçet-like disease
TNFAIP3
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OTULIN
Inflammatory bowel disease
Crohn disease-associated growth failure
IL6
Inflammatory bowel disease 13
ABCB1
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
SEL1L
Interleukin 10 deficiency
Graft-versus-host disease protection
IL10
HIV1 susceptibility
IL10
IL10
Rheumatoid arthritis progression
IL10
Interleukin 10 receptor deficiency
IL10RA
IL10RB
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
Interleukin-1 receptor antagonist deficiency
IL1RN
Majeed syndrome
LPIN2
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
MVK
Porokeratosis 3
MVK
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
NLRC4
Proteasome-associated autoinflammatory syndrome
PSMA3
Proteasome-associated autoinflammatory syndrome 1
PSMB8
Proteasome-associated autoinflammatory syndrome 2
POMP
Proteasome-associated autoinflammatory syndrome 3
PSMB4
PSMB9
Proteasome-associated autoinflammatory syndrome 4
PSMG2
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
Rheumatoid arthritis progression
IL10
STING-associated vasculopathy with onset in infancy
TMEM173
Susceptibility to malignant hyperthermia 5
CACNA1S
Systemic-onset juvenile idiopathic arthritis
IL6
LACC1
MIF
TNF receptor-associated periodic syndrome
TNFRSF1A
Vasculitis due to ADA2 deficiency
ADA2
Graft-versus-host disease protection
Hereditary complement disorders
Immunoglobulin disorders
Primary immunodeficiency
Susceptibility to allergic rhinitis
Susceptibility to asthma

References:

1.

Giat E et al. (2014) Cryopyrin-associated periodic syndrome.

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Update: May 7, 2019