Table 1 Genes associated with autoinflammatory disorder with their respective mode of inheritance

ACP5

Spondyloenchondrodysplasia with immune dysregulation

AR

ADA2

Deficiency of adenosine deaminase 2 (DADA2)

AR

ADAM17

Inflammatory skin and bowel disease, neonatal

AR

ADAR1; ADAR

Aicardi-Goutières syndrome

AR

ALPI

Monogenic inflammatory bowel disease

AR

AP1S3

Psoriasis 15, pustular

AD

CARD14

Familial psoriasis/ CARD14-mediated pustular psoriasis (CAMPS/PSORS2)

AD

CDC42

Takenouchi-Kosaki syndrome

AD

COPA

Autoimmune interstitial lung, joint, and kidney disease

AD

DNASE1L3

Systemic lupus erythematosus

AR

DNASE2

Type I interferon–mediated autoinflammation

AD

HAVCR2

T cell lymphoma, subcutaneous panniculitis

AR

IFIH1

Aicardi-Goutières syndrome

AD

IL10

Interleukin 10 deficiency (IL10D)

AR

IL10RA

Inflammatory bowel disease 28 (IBD28)/ interleukin 10 receptor A deficiency (IL10R1D)

AR

IL10RB

Inflammatory bowel disease 25 (IBD25)/ interleukin 10 receptor B deficiency (IL10R2D)

AR

IL1RN

Deficiency of interleukin-1ß (IL-1ß) receptor antagonist/ osteomyelitis, sterile multifocal with periostitis pustulosis (DIRA/OMPP)

AR

IL36RN

Deficiency of interleukin-36-receptor antagonist/ generalized pustular psoriasis (GPP)/ (DITRA/PSORP)

AR

LACC1

Juvenile arthritis

AR

LPIN2

MAJEED/ chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, & neutrophilic dermatosis

AR

MEFV

Familial Mediterranean fever

AR; AD

MVK

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS); melvanoic aciduria (MA)

AR

NCSTN

Acne inversa, familial

AD

NLRC4

Autoinflammation with infantile enterocolitis (AIFEC)

AD

NLRP12

NLRP12-associated periodic fever syndrome/ familial cold autoinflammatory syndrome 2, or Guadaloupe periodic fever (NLRP12/FCAS2)

AD

NLRP1

Autoinflammation with arthritis and dyskeratosis

AR; AD

NLRP3

Familial cold autoinflammatory syndrome (FCAS); Muckle-Wells syndrome (MWS); neonatal onset multisystemic inflammatory disorder/ chronic infantile neurological cutaneous articular syndrome (NOMID/CINCA)

AD

NLRP7

Hydatidiform mole, recurrent, 1 (HYDM1)

AR

NOD2

Juvenile systemic granulomatosis–Blau syndrome, pediatric granulomatous arthritis (PGA), Crohn's disease early onset sarcoidosis, or Jabs syndrome (BLAU/PGA/EOS)

AD

OAS1

Pulmonary alveolar proteinosis with hypogammaglobulinemia

AR

OTULIN

Otulipenia

AR

PLCG2

PLCG2-associated antibody deficiency and immune dysregulation/ familial atypical cold urticaria (FACU) (PLAID/FCAS3); autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID)

AD

POLA1

Type I interferon–mediated autoinflammation

XLR

POMP

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature—Nakajo Nishimura syndrome (CANDLE/PRAAS)

AR

PSMA3

PSMB4

PSMB8

PSMB9

PSMG2

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)

AR;AD

PSTPIP1

Pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome (PAPA)

AD

RBCK1

Polyglucosan body myopathy, early-onset, with or without immunodeficiency (PBMEI)

AR

RNASEH2A

Aicardi-Goutières syndrome

AR

RNASEH2B

RNASEH2C

SAMHD1

Chilblain lupus

AD

SH3BP2

Cherubism

AD

SLC29A3

SLC29A3 spectrum disorder (SLC29A3)

AR

TMEM173

Sting-associated vasculopathy, infantile-onset (SAVI)

AD

TNFAIP3

Autoinflammatory syndrome, familial, Behcet-like (AISBL)

AD

TNFRSF11A

TNFRSF11A-associated hereditary fever disease (TRAPS11)

AD

TNFRSF1A

TNF receptor-associated periodic syndrome (TRAPS)

AD

TREX1

Systemic lupus erythematosus; Aicardi-Goutières syndrome; Chilblain lupus

AR; AD

TRIM22

Inflammatory bowel disease

AR

TRNT1

Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay

AR

USP18

Pseudo-TORCH syndrome

AR

WDR1

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT)

AR