Skip to main content

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

From: Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes

Gene Disease 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
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
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
  1. AR autosomal recessive, AD autosomal dominant, XLR X-linked recessive