Auto-inflammatory disorders
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Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Classification
| Auto-inflammatory disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Recurrent inflammation | Systemic inflammation with urticaria rash | Others | Sterile inflammation (skin/bone/joints) | Type 1 Interferonopathies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Mediterranean Fever | Familial Cold Autoinflammatory Syndrome (CAPS) | CANDLE syndrome | Predominant on the bone/joints | Predominant on the skin | Aicardi-Goutieres syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mevalonate kinase deficiency | Muckle Wells syndrome | COPA defect | Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia | Blau syndrome | Spondyloenchondro-dysplasia with immune dysregulation | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TNF receptor-associated periodic syndrome; TRAPS | Neonatal onset multisystem inflammatory disease | NLRC4-MAS(Macrophage activating syndrome) | Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia | CAMPS | STING-associated vasculopathy, infantile onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PLAID (PLCg2 associated antibody deficiency and immune dysregulation), or APLAID | DIRA (Deficiency of the interleukin 1 receptor antagonist) | DITRA | ADA2 deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NLRP1 deficiency | Cherubism | ADAM17 deficiency | XL reticulate pigmentary disorder | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| A20 haploinsufficiency | SLC29A3 mutation | USP18 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Otulipenia/ORAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| AP153 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial Mediterranean Fever
- Autosomal recessive (AR) transmission.
- It is caused by mutation in the pyrin gene (MEFV) on chromosome 16.
- Patients present with recurrent fever and attacks of peritonitis.
- Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac)[1]
- Colchicine has also proved used in reducing painful attacks.[2]
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References
- ↑ A. Livneh & P. Langevitz (2000). "Diagnostic and treatment concerns in familial Mediterranean fever". Bailliere's best practice & research. Clinical rheumatology. 14 (3): 477–498. doi:10.1053/berh.2000.0089. PMID 10985982. Unknown parameter
|month=ignored (help) - ↑ S. E. Goldfinger (1972). "Colchicine for familial Mediterranean fever". The New England journal of medicine. 287 (25): 1302. doi:10.1056/NEJM197212212872514. PMID 4636899. Unknown parameter
|month=ignored (help)