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55L ALLELE OF PARAOXONASE-1 MAY BE PREDICTIVE OF REDUCED MORBIDITY AND HIGHER SURVIVAL IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID)

Lecture Time
10:04 - 10:05
Presenter
  • Myrthes T. Barros, Brazil
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
108
Presentation Topic
Other

Abstract

Background and Aims

CVID courses with infections, autoimmunity, benign lymphoproliferations, and increased incidence of malignancies, configuring a state of persistent immune activation and alterations in oxidative metabolism. There is evidence that paraoxonase-1 (PON-1), a factor controlling oxidative stress and tissue damage, is implicated in disease severity and survival. Our objective was to relate arilesterase (AA) activity, genotypes and alleles of PON1-L55M polymorphisms to disease severity and survival.

Methods

We analyzed 101 adult patients for demographic data, comorbidities, mortality and survival. PON1 genotyping (PCR-RFLP) and AA were compared to 130 healthy controls (p <0.05).

Results

Genotypic distribution was similar between groups and AA was lower in patients, which may contribute to intense inflammatory state. Patients with 55MM-genotype presented a more severe disease due to higher frequency of lymphadenopathy, splenomegaly, hepatomegaly, portal hypertension, sepsis, neoplasms and deaths compared to LM/LL-genotypes. This difference was not due to deleterious characteristic of the MM-genotype, but a protective role of the 55L allele, since patients with at least one copy of it (LM or LL) had lower prevalence of malignancies, hepatomegaly, sepsis and deaths. They also presented greater survival rates in relation to disease time and diagnostic delay. Risk of death was lower in patients with L-allele and higher in patients with chronic obstructive pulmonary disease, lymphadenopathy, neoplasms, splenomegaly, hepatomegaly and sepsis.

Conclusions

Our results suggest that 55L-allele may play a protective role in CVID, since patients with 55LL/55LM-genotypes presented lower prevalence of hepato/splenomegaly, portal hypertension, malignancies, sepsis and deaths, along with higher survival, compared to those with 55MM genotype.

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