The systemic autoinflammatory diseases, a partial listing.
| Syndromes . | OMIM* . | Inheritance . | Genes or Risk Factors . |
|---|---|---|---|
| Other possible categories of autoinflammatory disease include metabolic disorders such as gout and pseudogout, storage diseases such as Gaucher’s disease and Hermansky-Pudkak syndrome, and fibrosing disorders such as idiopathic pulmonary fibrosis. | |||
| *Online Mendelian Inheritance in Man, an online catalog of genetic disorders available at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM | |||
| Hereditary periodic fever syndromes | |||
| Familial Mediterranean fever (FMF) | 249100 | Autosomal recessive | MEFV |
| TNF receptor–associated periodic syndrome (TRAPS) | 142680 | Autosomal dominant | TNFRSF1A |
| Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) | 260920 | Autosomal recessive | MVK |
| Familial cold autoinflammatory syndrome (FCAS) | 120100 | Autosomal dominant | CIAS1/NALP3/PYPAF1 |
| Muckle-Wells syndrome (MWS) | 191100 | Autosomal dominant | CIAS1/NALP3/PYPAF1 |
| Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome | 607115 | Sporadic, autosomal dominant | CIAS1/NALP3/PYPAF1 |
| Idiopathic febrile syndromes | |||
| Syndrome of periodic fever with aphthous stomatitis, pharyngitits, and cervical adenopathy (PFAPA) | —- | Not usually familial | — |
| Systemic-onset juvenile idiopathic arthritis (SOJIA) | 604302 | Complex | IL-6, MIF polymorphisms |
| Adult-onset Still’s disease | — | Not usually familial | — |
| Granulomatous disorders | |||
| Crohn’s disease | 266600 | Complex | NOD2/CARD15, ABCB1 (Ala893), MEFV (?) |
| Chronic granulomatous synovitis with uveitis and cranial neuropathy (Blau syndrome) | 186580 | Autosomal dominant | NOD2/CARD15 |
| Early onset sarcoidosis | 609464 | Sporadic, autosomal dominant | NOD2/CARD15 |
| Pyogenic disorders | |||
| Syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA) | 604416 | Autosomal dominant | PSTPIP1 |
| Chronic recurrent multifocal osteomyelits (CRMO) | 259680 | Sporadic, autosomal recessive | LPIN2, when associated with congenital dyserythropoietic anemia (Majeed syndrome) |
| Synovitis, acne, pustulosis, hyerostosis, and osteitis syndrome (SAPHO) | — | Not usually familial | — |
| Hemophagocytic disorders | |||
| Primary hemophagocytic lymphohistiocytosis | 603553, 607624 | Autosomal recessive | PRF1, RAB27A |
| Macrophage activation syndrome (MAS) | — | Not usually familial | Pediatric rheumatic diseases |
| Complement disorders | |||
| Hereditary angioedema | 106100 | Autosomal dominant | C1NH |
| Vasculitic syndromes | |||
| Behçet’s disease | 109650 | Complex | HLAB51 |
| Syndromes . | OMIM* . | Inheritance . | Genes or Risk Factors . |
|---|---|---|---|
| Other possible categories of autoinflammatory disease include metabolic disorders such as gout and pseudogout, storage diseases such as Gaucher’s disease and Hermansky-Pudkak syndrome, and fibrosing disorders such as idiopathic pulmonary fibrosis. | |||
| *Online Mendelian Inheritance in Man, an online catalog of genetic disorders available at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM | |||
| Hereditary periodic fever syndromes | |||
| Familial Mediterranean fever (FMF) | 249100 | Autosomal recessive | MEFV |
| TNF receptor–associated periodic syndrome (TRAPS) | 142680 | Autosomal dominant | TNFRSF1A |
| Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) | 260920 | Autosomal recessive | MVK |
| Familial cold autoinflammatory syndrome (FCAS) | 120100 | Autosomal dominant | CIAS1/NALP3/PYPAF1 |
| Muckle-Wells syndrome (MWS) | 191100 | Autosomal dominant | CIAS1/NALP3/PYPAF1 |
| Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome | 607115 | Sporadic, autosomal dominant | CIAS1/NALP3/PYPAF1 |
| Idiopathic febrile syndromes | |||
| Syndrome of periodic fever with aphthous stomatitis, pharyngitits, and cervical adenopathy (PFAPA) | —- | Not usually familial | — |
| Systemic-onset juvenile idiopathic arthritis (SOJIA) | 604302 | Complex | IL-6, MIF polymorphisms |
| Adult-onset Still’s disease | — | Not usually familial | — |
| Granulomatous disorders | |||
| Crohn’s disease | 266600 | Complex | NOD2/CARD15, ABCB1 (Ala893), MEFV (?) |
| Chronic granulomatous synovitis with uveitis and cranial neuropathy (Blau syndrome) | 186580 | Autosomal dominant | NOD2/CARD15 |
| Early onset sarcoidosis | 609464 | Sporadic, autosomal dominant | NOD2/CARD15 |
| Pyogenic disorders | |||
| Syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA) | 604416 | Autosomal dominant | PSTPIP1 |
| Chronic recurrent multifocal osteomyelits (CRMO) | 259680 | Sporadic, autosomal recessive | LPIN2, when associated with congenital dyserythropoietic anemia (Majeed syndrome) |
| Synovitis, acne, pustulosis, hyerostosis, and osteitis syndrome (SAPHO) | — | Not usually familial | — |
| Hemophagocytic disorders | |||
| Primary hemophagocytic lymphohistiocytosis | 603553, 607624 | Autosomal recessive | PRF1, RAB27A |
| Macrophage activation syndrome (MAS) | — | Not usually familial | Pediatric rheumatic diseases |
| Complement disorders | |||
| Hereditary angioedema | 106100 | Autosomal dominant | C1NH |
| Vasculitic syndromes | |||
| Behçet’s disease | 109650 | Complex | HLAB51 |