P03-002 - Different phenotypes associated with Q703K variant

P03-002 - Different phenotypes associated with Q703K variant

Introduction PFAPA syndrome is characterized by recurrent fever with aphtosis, pharyngitis and cervical adenitis. It is suspected to be an auto-inflammatory disease (AID). For some AID, a monogenic origin has been established in the past years. In PFAPA no clear aetiology has been found yet. However in some patients variants in the NLRP3 gene can be found. The variant Q703K was described so far...

PReS-FINAL-2325: Different phenotypes associated with Q703K variant of the NLRP3 gene

Results We found the NLRP3 variant Q703K in 13 patients. Ten were PFAPA patients among 97 from our cohort; one had a CAPS phenotype and two an undefined autoinflammatory disease (UAID): 9 boys and 4 girls with a median age of 18 months at disease onset. Family history was positive in 6 PFAPA and one UAID patients. For PFAPA, the median duration of fever was 4 days; the median interval was 4 wee...

P03-010 - IL10 SNPs associated with BD in Western Algeria

P01-002 – Comparison between different colchicines responders

Results The study group comprised 221 FMF patients (116F, 105M) with a mean age of 12.7±5.3 years. Mean duration of colchicine use was 58.9±45.3 months. Patients were divided into two groups according to their colchicine response; Group I (n=131) included patients with no attacks after colchicine and Group II (n=90) patients with partial or no response to colchicine. Mean age, sex, age at disea...

Variant merozoite protein expression is associated with erythrocyte invasion phenotypes in Plasmodium falciparum isolates from Tanzania.