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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
CARD14 associated psoriasis
Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14
Chronic recurrent multifocal osteomyelitis
Congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis
Majeed syndrome
LPIN2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1
F12
Familial cold autoinflammatory syndromes
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
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Interleukin 10 receptor deficiency
IL10RA
IL10RB
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
Interleukin-1 receptor antagonist deficiency
IL1RN
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
Pseudo-TORCH-Syndrom
Pseudo-TORCH syndrome 1
OCLN
Pseudo-TORCH syndrome 2
USP18
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
Central giant cell lesion
SH3BP2
Cherubism
SH3BP2
Familial multilocular cystic disease of the jaws
SH3BP2
STING-associated vasculopathy with onset in infancy
TMEM173
Singleton-Merten syndrome
Singleton-Merten syndrome 1
IFIH1
Singleton-Merten syndrome 2
DDX58
Susceptibility to malignant hyperthermia 5
CACNA1S
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Systemic autoinflammatory disease
ADA2 deficiency
Sneddon syndrome
ADA2
Vasculitis due to ADA2 deficiency
ADA2
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
MVK
Porokeratosis 3
MVK
NOD2-associated disease
Blau syndrome
NOD2
inflammatory_bowel_disease_1_crohn_disease
NOD2
yao_syndrome
NOD2
Pyrin-associated autoinflammatory disease
Acute febrile neutrophilic dermatosis
MEFV
Familial Mediterranean fever
MEFV
SAA1
TNFRSF1A
Systemic-onset juvenile idiopathic arthritis
IL6
LACC1
MIF
TNF receptor-associated periodic syndrome
TNFRSF1A
Chediak-Higashi syndrome
Graft-versus-host disease protection
Griscelli syndrome type 2
Hereditary complement disorders
Immunoglobulin disorders
Interferonopathy
Primary immunodeficiency
Susceptibility to allergic rhinitis
Susceptibility to asthma

References:

1.

Touitou I et al. (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes.

external link
2.

Ben-Chetrit E et al. (2018) Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.

external link
3.

Shinar Y et al. (2020) ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

external link
4.

Toplak N et al. (2012) An international registry on autoinflammatory diseases: the Eurofever experience.

external link
5.

Wikipedia article

Wikipedia EN (Periodic_fever_syndrome) external link
Update: Aug. 14, 2020
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