|
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
|
