Dan retkih bolesti

Poštovani,
Povodom obeležavanja Međunarodnog dana retkih bolesti pozivamo Vas da prisustvujete skupu posvećenom retkim bolestima, u organizaciji Kliničkog centra Srbije i Nacionalne organizacije za retke bolesti Srbije.
Skup će se održati u svečanoj sali Dekanata Medicinskog fakulteta 27. februara 2014. godine sa početkom u 10 časova.
 
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Pozivnica
 
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Program
 
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Saopštenje za medije i program

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

Angulo I , Vadas O,Garçon F,Banham-Hall E,Plagnol V,Leahy TR,Baxendale H,Coulter T,Curtis J,Wu C, Blake-Palmer K , Perisic O,Smyth D,Maes M,Fiddler C,Juss J,Cilliers D,Markelj G,Chandra A,Farmer G,Kielkowska A,Clark J,Kracker S,Debré M,Picard C,Pellier I,Jabado N, Morris JA, Barcenas-Morales G , Fischer A,Stephens L,Hawkins P,Barrett JC,Abinun M,Clatworthy M,Durandy A,Doffinger R,Chilvers ER,Cant AJ,Kumararatne D,Okkenhaug K,Williams RL,Condliffe A, Nejentsev S.

Author information

Abstract

Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to infections. Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene. We found E1021K in 17 patients from seven unrelated families, but not among 3346 healthy subjects. APDS was characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced immunoglobulin G2 levels in serum and impaired vaccine responses. The E1021K mutation enhanced membrane association and kinase activity of p110δ. Patient-derived lymphocytes had increased levels of phosphatidylinositol 3,4,5-trisphosphate and phosphorylated AKT protein and were prone to activation-induced cell death. Selective p110δ inhibitors IC87114 and GS-1101 reduced the activity of the mutant enzyme in vitro, which suggested a therapeutic approach for patients with APDS.

http://www.ncbi.nlm.nih.gov/ pubmed/24136356?dopt=Abstract


 

Prva nacionalna konferencija o retkim bolestim u Srbiji

U Hotelu Hallyday In u Beogradu, od 05 do 07 decembra 2013 godine odvija se Prva nacionalna konferencija o retkim bolestim u Srbiji.

Konferenciju organizuje Nacionalna organizacija za retke bolesti uz podršku sponzora, pod pokroviteljstvom EURORDIS-a I Ministarstva zdravlja republike Srbije. Nase Udruženje POsPID je, kao što znate, jedan od osnivača NORBS-a I imaće svoje predstavnike na konferenciji.

Konferencija je prva prilika da se na jednom mestu sretnu lekari koji se bave retkim bolestima ili koji žele o njima da uče,  pacijenti tj. osobe sa retkim bolestima, donosioci odluka I kreatori politika kojima se obezbeđuje nega I lečenje osoba sa retkim bolestima u Srbiji.

Pridružite se Konferenciji, ispratite je u medijima I podrzite decu I odrasle sa retkim bolestima, jer im je potrebna podrška svih nas da bi se izborili sa svojom bolešću I ostvarili što kvalitetniji život.

 

Program možete preuzeti klikom na ikonu


 

Eurodis Photo Contest

Dear Eurordis Members

We recently launched a Photo Contest, inviting anyone with an interest in rare diseases to share their most beautiful and original images. Besides giving participants the chance to win some great prizes, the EURORDIS Photo Contest is an opportunity to communicate visually the many diverse facets of living with a rare disease.

Contest finalists will have their work displayed during the European Conference on Rare Diseases and Orphan Products ( ECRD), taking place in Berlin in May 2014.

Even those who are not shutterbugs can participate in the EURORDIS Photo Contest by voting for their favourite photograph(s)!

The top favourites will be sent to a jury (composed of the members of the EURORDIS Board of Directors) who will choose three final winners. Prizes include an Apple Ipad, Archos 80 Tablet, and Olympus camera.

We have already received more than 100 photos from more than 30 countries and representing almost 50 rare diseases.

With your support, we would like reach the widest audience possible, bringing awareness to the many diverse facets of living with a rare disease. We would be very grateful if you could mention this Photo Contest on your communication supports (newsletters, websites, Facebook, Twitter…). We can provide you all the visuals and texts you need.

 

For more information, please contact us at Ova adresa el. pošte je zaštićena od spambotova. Omogućite JavaScript da biste je videli.

Best regards

Your Eurordis Team

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Lečenje PIDa

Najpre pažljivo doziranim odgovarajućim antibioticima za česte ponovljene infekcije gornjih i donjih disajnih puteva čime se bitno popravlja kvalitet života pacijenta i porodice.

Opširnije

 

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Jeffrey Modell Foundation

Šta je PID?

Primarne imunodeficijencije su grupa poremećaja u radu našeg imunog sistema koji nastaju kada delovi imunog sistema (pre svega neke ćelije i proteini) ne funkcionišu kako treba.

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Uzroci

PID su uzrokovane naslednim ili genetskim poremećajima imunog sistema, sa njim se dete rađa, a bolest se može manifestovati odmah po rođenju ili kasnije tokom života.

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