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.

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

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.

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

5.	Wikipedia article Wikipedia EN (Periodic_fever_syndrome)

Update: June 23, 2025

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