|
Disorder
(OMIM) |
Gene
Locus |
Protein involved |
Pattern of inheritance |
Major clinical findings |
Treatment |
| FMF
(249100) |
MEFV 16p13.3 |
Pyrin (marenostrin) |
AR |
fever, serositis (peritonitis, pleuritis, pericarditis),
arthralgias or arthritides, erysipelas-like eruption in the
lower extremities, recurrent vasculitides,amyiloidosis in the
untreated or noncompliant patients |
Colchicine,
interleukin-1
antagonists |
| TRAPS
(142680) |
TNFRSF1A 12p13 |
Tumor necrosis factor receptor type 1 (TNFRSF1A, or CD120a) |
AD |
fever, migratory muscle, skin and joint inflammatory signs,
abdominal pain, vomiting, serositis (pleuritis, pericarditis),
conjunctivitis, periorbital edema, amyloidosis |
Etanercept,
anakinra |
| HIDS
(260920) |
MVK 12q24 |
Mevalonate kinase |
AR |
fever, polymorphous skin rash, arthralgias, abdominal pain of
different severity, diarrhea, lymph node enlargement,
splenomegaly, oral aphthosis |
Anti-
inflammatory
drugs,
corticosteroids,
anakinra |
| FCAS
(120100) |
NLRP3
1q44 |
Cryopyrin |
AD |
fever, cold-induced urticaria-like rash, conjunctivitis, arthralgias |
Interleukin-1 antagonists (canakinumab) |
| MWS
(191900) |
fever, urticaria-like rash, conjunctivitis, arthralgias, neurosensorial
deafness, amyloidosis |
| NOMID
(607115) |
urticaria-like rash, aseptic chronic meningopathy, papilledema,
optic nerve atrophy, neurosensorial deafness, deforming
osteo-arthropathy of large joints (with abnormal patellar
ossification), amyloidosis |
| NLRP12-ad
(609648) |
NLRP12
19q13.42 |
Monarch 1 |
AD |
cold-induced urticaria-like rash |
Interleukin-1
antagonists |
| PAPAs
(604416) |
PSTPIP1
15q24-25 |
CD2 antigen-binding protein 1 |
AD |
pyogenic sterile arthritis, pyoderma gangrenosus, cystic acne |
Corticosteroids,
tumor necrosis
factor-
inhibitors,
interleukin-1
antagonists |
| MS
(609628) |
LPIN2
18p11.31 |
Lipin 2 |
AR |
recurrent multifocal osteomyelitis, dyserythropoietic anemia,
neutrophilic dermatosis |
Corticosteroids |
| DIRA
(612852) |
IL1RN
2q |
Interleukin-1 receptor antagonist |
AR |
sterile multifocal osteomyelitis with neonatal onset, pustular rash
with ichthyosis-like changes |
Anakinra |
| BS
(186580) |
NOD2 (CARD15)
16q12.1-13 |
NOD2 (CARD15) |
AD |
recurrent symmetric granulomatous polyarthritis, granulomatous
panuveitis, brown-coloured and flaky granulomatous rash |
Corticosteroids,
infliximab |
| CANDLEs
(256040) |
PSMB8 6p21.3 |
b5i subunit of the immunoproteasome |
AR |
recurrent fever, cold-induced pernio-like and vasculitic skin
lesions, progressive lipodystrophic changes in the upper
body, joint contractures, clubbed fingers |
Corticosteroids,
interferon-
gamma
modulators, interleukin-6
antagonists |
|
