Code : 9822-352362      Created Date : Saturday, February 4, 2017   Visit : 2736

17th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2016)

The report of 17th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2016) by Shaghayegh Tajik
Application Code :
306-0216-0128
 
Created Date : Sunday, May 15, 2016-11:56 11:56:02Update Date : Wednesday, December 28, 2016-11:40 11:40:03
IP Address : 194.225.212.150Submit Date : Wednesday, December 28, 2016-11:41 11:41:05Email :sh_tajik.2006@yahoo.com
Personal Information
Name : Shaghayegh
Surname : Tajik
School/Research center : Immunology, Asthma and Allergy Research Institute (IAARI)
If you choose other, please name your Research center :  
Position : staff
Tel : +98-21-66907416
   
Information of Congress
Title of the Congress : 17th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2016)
Title of your Abstract : MOLECULAR ANALYSIS OF NCF1 GENE IN 42 IRANIAN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE (INTRODUCING 2 NOVEL MUTATIONS)
Destination Country : Spain
From : Wednesday, September 21, 2016
To : Saturday, September 24, 2016
Abstract(Please copy/paste the abstract send to the congress) : Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of the innate immune system. The disease is classified by mutations in specific subunits of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme (membrane-bound subunits gp91-phox, p22-phox, and cytosolic subunits p47-phox, p67-phox). The defect leads to defective intracellular killing by phagocyte cells. One of the components of NADPH-oxidase is p47-phox encoded by NCF1 gene. This study aims to identify new genetic changes in NCF1 gene among 42 Iranian patients with CGD.
Methods: Forty two CGD patients based on defect in NBT test and DHR-123 assay with loss of p47-phox in western blotting were entered this study. They were referred to Immunology, Asthma and Allergy Research Institute (IAARI) for diagnosis and treatment (between 2008- 2016). To identify mutations we used PCR amplification followed by direct sequencing for all exons and exon-intron boundaries.
Results: Mutation analysis of NCF1 gene in all patients identified six different mutations including 2 novel ones: a missense mutation c.328C>T (p.R110C), and a nine-nucleotide deletion, c.331_339TGTCCCCACdel (p.111_113CPHdel). 
Conclusions: Two novel mutations of NCF1 gene were found in 42 Iranian patients with CGD. Genetic detection of these mutations results in early diagnosis and prevention of possible complications of disease. It will be helpful for carrier detection as well as prenatal diagnosis of next children in the affected families. 
Keywords of your Abstract : Chronic Granulomatous Disease, p47-phox, NCF1gene, Novel mutation, Molecular diagnosis 
 
Acceptance Letter : http://gsia.tums.ac.ir/images/UserFiles/30276/Forms/306/Accepted_abstract.pdf
The presentation : eposter
The Cover of Abstract book : http://gsia.tums.ac.ir/images/UserFiles/30276/Forms/306/Abstract_book_Cover.pdf
Published abstract in the abstract book with the related code : http://gsia.tums.ac.ir/images/UserFiles/30276/Forms/306/abstract_in_ESID2016.pdf
Where has your abstract been indexed? : ISI
If you choose other, please name :  
The Congress Reporting Form
How many volunteers were present at the Congress? : Approximately 2500 volunteers were present at ESID 2016 Congress.
Delegates from which countries presented in the congress? : France, Germany, the Netherlands, Sweden, Finland, Ireland, Italy, England, Japan, Kuwait, Egypt, UK, Spain, Greece, Hungary, America, Iceland, India,......
Were the delegates of any other organizations present in the congress? : Yes
If yes, please write the names of the organizations in the box : IPOPI, INGID
What were the responses to your talking points? Were specific questions or concerns raised? : They asked about registration of Primary Immunodeficiency (especially CGD) in Iran.
Also they interested in aware of PID prevalence and relation between autosomal recessive and consanguinity in Iranian families.
If you met staff members, please list their full names & positions. : Mustafa Yavuz Koker, MD, PHD, faculty of medicine of Erciyes, Turkey.
Hiroyuki Nunoi, MD,PHD, faculty of medicine University of Miyazaki, Japan.
 
Please inform us if there are any follow up actions we need to talk with the members of the congress : I think one the most important thing for participating in international congress is that you should be good at your English language and your major that you can share scientific work with other researcher and professor. you can keep your touch with them and prompt some projects as an International event.
Your experiences about the travel processes(Providing ticket, accommodation,...) : It is better every one follow and reserve ticket and accommodation as soon as possible. I did all of my travel process with an Travel agency, so everything went to well.
Please give a briefing of your own observations and outcomes of the congress: : There were a unique atmosphere in ESID2016 Congress to discuss pathogenesis, diagnosis and treatment of primary immune deficiency (PID) from new and different aspects. Having the experience of participation of more than 2500 scientists, professors and young researchers from United States of America, Germany, Italy, Sweden, England, the Netherlands, Hungary,and.... this congress had proved to be a great opportunity for exchanging knowledge and experiences, networking with other researchers and professionals from all over. Deliver national reports about prevalence and incidence of diseases related to Immunology which could play a significantly important role in education and research policymaking, updating methods of diagnosis, treatment and prevention especially regarding genetics and epigenetics.
There were a friendly relation between basic and clinical immunology in education, research, treatment and prevention of diseases too

 

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