The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome

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Abstract
We identified a patient with CINCA syndrome who had a T348M mutation of the cryopyrin gene using genomic DNA extracted from whole blood, as described previously.1 Because cryopyrin is largely expressed in monocytes and neutrophils, we performed functional in vitro tests using blood leucocytes of this patient (table 1) at three time points: A. medium inflammatory activity (9.59×109 blood neutrophils/l); B. high inflammatory activity (14.950×109/l); and C. low inflammatory activity (5.47×109/l). The patient did not receive immunosuppressive drug treatment except at time point C (300 mg infliximab).