Autoinflammatory diseases: mimics of autoimmunity or part of its spectrum? Case presentation.
BACKGROUND
Autoinflammatory diseases are very rare diseases presenting within a wide clinical spectrum. Recognition of the main clinical features are challenging due to overlapping or mimicking with autoimmune diseases.


CONCLUSIONS
A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of FMF with Behçet disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset arthritis.


CONCLUSIONS
These cases may represent examples of a very puzzling relationship among disorders of innate and adaptive immune systems and inflammation.
Kiss
Maria Helena B
MH
Rheumatology Ph.D, University of São Paulo Medical School, São Paulo, Brazil. mhbkiss@terra.com.br
Magalhães
Claudia Saad
CS
D000328:Adult; D001168:Arthritis / Q000175:diagnosis / Q000276:immunology; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D015551:Autoimmunity; D001528:Behcet Syndrome / Q000175:diagnosis / Q000276:immunology; D002352:Carrier Proteins / Q000235:genetics* / Q000276:immunology; D002648:Child; D003092:Colitis / Q000175:diagnosis / Q000276:immunology; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000276:immunology; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate; D007223:Infant; D007249:Inflammation; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000071198:Pyrin
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin