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2004-2014
The 100th J Project Meeting
12-14 March 2014
Rixos Lares Hotel, Lara, Antalya, Turkey
Contact: Katalin Vámos ([email protected])
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PRELIMINARY PROGRAM
12 March 2014
10:00-20:00
Registration
Cutting-edge educational symposium
Chairs: Mary Ellen Conley, Memphis
Anna Sediva, Prague
Tadej Avcin, Ljubljana
13:00-13:20
13:20-13:40
13:40-14:00
14:00-14:20
14:20-14:40
14:40-15:00
15:00-15:30
Laboratory diagnostic approaches to primary B cell deficiencies
Mary Ellen Conley, Memphis
Specific antibody deficiencies with normal immunoglobulins
Ricardo Sorensen, New Orleans
Recent advances in understanding immunoglobulin class switch deficiencies
Anne Durandy, Paris, France
Update on CVID and IgA deficiency
Lennart Hammarström, Stockholm, Sweden
Current understanding of immunopathology of XLP
Stuart Tangye, Sydney, Australia
Pathophisiology of and molecular genetics of periodic fever syndromes
Tadej Avcin, Ljubljana
BREAK
Chairs: Malgorzata Pac, Warsaw
Nima Rezaei, Tehran
Andrew Cant, Newcastle upon Tyne
15:30-15:50
15:50-16:10
16:10-16:30
16:30-16:50
16:50-17:10
17:10-17:30
Conventional and novel genetic approaches to PIDs
Hans Ochs, Seattle
Laboratory evaluation of TLR-mediated immunity
Xavier Bossuyt, Leuven, Belgium
PID patients with neutropenia: differential diagnostic algorythms
Nima Rezaei, Tehran, Iran
Novel adhesion protein deficiencies
Amos Etzioni, Haifa, Izrael
Genetic forms of Omenn syndrome
Anna Villa, Milan, Italy
BMT/HSCT: a success story of treating PID patients
Andrew Cant, Newcastle upon Tyne
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17:30-18:30
Dinner
18:45-19:15
Welcome addresses
László Maródi, Leader, J Project
Ismail Reisli, Leader, J Daughter Anatolia Project
Amos Etzioni, President, ESID
Jose Drabwell, Chair, IPOPI Board
Dilşad Mungan, Turkish Society of Allergy and Clinical Immunology
Günnur Deniz, President, Turkish National Society of Immunology
19:15-20:15
KEYNOTE LECTURE
Chairs:
Ismail Reisli, Konya
László Maródi, Debrecen
Life-threatening infectious diseases of childhood: single-gene inborn errors of
immunity
Jean-Laurent Casanova, Paris-New York, France-USA
20:15-21:45
CHEESE AND WINE WELCOME RECEPTION and
J PROJECT POSTER SESSION I.
POSTER SESSION I.
PID registries and databases
Chairs:
Larysa Kostyuchenko, Lviv
Klaus Warnatz, Freiburg
Kristina Mironska, Skopje
Jadranka Kelecic, Zagreb
Irina Kondratenko, Moscow
1. Molecular genetic testing of PID genes at the Debrecen J Project Center over the
past 10 years.
Beáta Tóth, Melinda Erdős, Vera Gulácsy, Gabriella Csorba, István Balogh, László
Maródi, Debrecen, Hungary
2. Epidemiological and genetic features of PID in children in Belarus
Mikhail Belevtsev, Andrey Salivonchik, Olga Aleinikova,Minsk, Belarus
3. Update of PID activities in Iran
Nima Rezaei, Asghar Aghamohammadi, Tehran, Iran
4. The spread of the J Project
Zsuzsa Horváth, Nima Rezaei, Ismail Reisli, Irina Tuzankina, Nurzhan Otarbayev,
Panteley Popandopulo, László Maródi, Debrecen-Iran-Konya-Ekaterinburg-Astana City,
Hungary-Tehran-Turkey-Russia-Kazakshtan
5. Polish registry of primary immunodeficiency
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Malgorzata Pac, Nel Dąbrowska-Leonik, Aleksandra Kucharczyk, Sylwia Koltan, and the
Polish Working Group for Primary Immunodeficiencies
6. Epidemiological and genetic features of PID patients in Russian Children’s Clinical
Hospital: 20 years of experience
Olga Paschenko, Irina Kondratenko, Andrey Bologov, Moscow, Russia
7. Primary immunodeficiencies in childhood and adults: The Siberian PID registry
Irina Tuzankina, Yelena Vlasova, Marina Karakina, Evgeniya Bass, Ekaterinburg,
Russia
8. National PID registry in Ukraine
Liudmyla Chernyshova, Anastasia Bondarenko, Alla Volokha, Kiev, Ukraine
9. Registered PID patients in Zonguldak
Mutlu Yüksek, Zonguldak, Turkey
10. Adult PID patients in a newly established immunology/allergy division in Konya
Caliskaner Zafer, Arslan Sevket, Konya, Turkey
11. Registered PID patients between 2006 and 2013 in Gaziantep
Özkars Mehmet, Antep, Turkey
12. The spectrum of primary immunudeficiency disorders: 3 year experince in a single
center
Fazıl Orhan, Zekiye İlke Kılıç Topçu, Mehtap Haktanır Abul, Trabzon, Turkey
13. Frequency and characteristics of patients with CVID over 18 years of age
Fevzi Demirel, Uğur Muşabak, Sait Yeşillik, Abdullah Baysan, Özgür Kartal, Mustafa
Güleç, Osman Şener, Ankara, Turkey
14. Education and PID awareness among medical students
Nesrin Reisli, İsmail Reisli, Konya, Turkey
15. Adult PID screening program in out-patient settings
Arslan Sevket, Caliskaner Zafer, Konya, Turkey
16. Clinical and genetic features of CGD in ECE countries
Gasper Markelj, Ljubljana, Slovenia
17. MEFV carrier rate in ECE countries
Marusa Debeljak, Ljubljana, Slovenia
18. Nijmegen breakage syndrome in Ukraine: frequency, medical support and
follow-up
Larysa Kostyuchenko, Yayina Romanyshyn , H. Akopjan, N. Markevych, N. Kicera, Lviv,
Ukraine.
19. The expanding spectrum of PID: data from the Slovenian PID registry
Stefan Blazina, Ljubljana, Slovenia
20. PID in Bulgaria: results of the Bulgarian Association of Clinical Immunology
initiatives
Elissaveta Naumova, Marta Baleva, Iskra Altankova, Mariana Murdjeva. Sofia, Bulgaria
21. Pediatric PID patients care – single centre experience
Guergana Petrova Stoyanova, Penka Ilieva Perenovska, Snejina Mihailova Kandilarova,
Elissaveta Naumova, Sofia, Bulgaria
22. Primary immune deficiencies - experience and activity for diagnostics and therapy
at the biggest Bulgarian hospital in Plovdiv
Marianna Murdjeva, Maria Spassova, Miroslava Bosheva, Plovdiv, Bulgaria
23. Prenatal genetic diagnosis of PID in 20 families
Gabriella Csorba, Beáta Tóth, Olga Török, István Balogh, Melinda Erdős, László
Maródi, Debrecen, Hungary
24. Adverse events following IVIG in Egyptian children
Shorouk Abdallah, Aisha Marsafy, Jeanette Boutros, Nermeen Galal, Safa Meshaal,
Rabab El Hawary, Cairo, Egypt
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25. Importance of definite diagnosis of primary immunodeficiency diseases: Iran as an
example of developing country
Hassan Abolhassani, Amir Hossein Latif, Firouzeh Tabassomi1, Asghar
Aghamohammadi, Nima Rezaei, Lennart Hammarstrom, Tehran-Stockholm, Iran-Sweden
26. Croatian PID database
Jadranka Kelecic, Darko Richter, Nevenka Cigrovski, Dorian Tjesic-Drinkovic, Zagreb,
Croatia
27. Macedonian registry of PID
Kristina Mironska, Katarina Stavric, Arijeta Hasani, Lidia Kareva, Skopje, Rep. of
Macedonia
28. Progress of PI identification in Republic of Kazakhstan after start of J project
realization
Nurzhan Otarbayev, Elena Kovzel, Aigul Ibraeva Astana City, Kazakhstan
29. Management of patients with CVID in the Central Bohemia - data from the Czech
PID registry
Tomas Milota, Michal Podrazil, Radana Zachova, Anna Sediva, Prague, Czech Republic
30. PID patient care in North-East Iran
Reza Farid Hosseini, Mashhad, Iran
31. Overview of primary immunodeficiency disorders diagnosed in the Primary
Immunodeficiency Centre of the Hospital of Lithuanian University of Health
Sciences
Laura Zilinskaite, Ieva Bajoriuniene, Raimundas Sakalauskas, Brigita Sitkauskiene,
Kaunas, Lithuania
32. PID center in St. Petersburg
Marina Guseva, Areg Totolian, Natalia Kalinina, Nadejda Shabashova, St. Petersburg,
Russia
33. PID cases in Albania
Georgina Kuli-Lito, Eli Kallfa, Zamira Ylli, Anila Laku-Babameto, Tirana, Albania,
Albania
T CELLS
Chairs:
Marina Guseva, St. Petersburg
Liudmila Cerempei, Chisinau
Aziz Bousfiha, Casablanca
Hamoud Al-Mousa
Yanick J Crow, Manchester
1. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from
different ethnic groups
Beáta Tóth, Huabao Jiao, Melinda Erdős, Ingvor Fransson, István Balogh, Zoltán
Magyarics, Beáta Dérfalvi, Gabriella Csorba, Anna Szaflarszka, Irina Kondratenko,
Andre Megarbane, Carlo Akatcherian, Ghassan Dbaibo, Lennart Hammarström, Juha
Kere, Gérard Lefranc, László Maródi, Beijing-Debrecen-Skövde-Budapest-CracowMoscow-Beirut- Stockholm- Montpellier, China-Hungary-Sweden-Poland-RussiaLebanon-France
2. Neuroendocrine carcinoma associated with X-linked hyper-IgM syndrome.
Melinda Erdős, Miklós Garami, Éva Rákóczi, Attila Zalatnai, Daniel Steinbach, Ulrich
Baumann, Gabrielle Kropshofer, Beáta Tóth, László Maródi, Debrecen-Budapest-JenaFrankfurt-Innsbruck, Hungary-Germany-Austria
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3. Characterization of a new disease-causing mutation in a family with X-linked
lymphoproliferative disease
Éva Uzvölgyi, Melinda Erdős, Zoltán Nemes, Olga Török, Nils Went-Sümegi, János
Sümegi, László Maródi, Debrecen-Cincinnati, Hungary-USA
4. New dedicator of cytokinesis 8 mutations identified by multiple ligation-dependent
probe amplification
Beáta Tóth, Gabriella Csorba, István Balogh, Tímea Kovács, Vera Gulácsy, Melinda
Erdős, László Maródi, Debrecen, Hungary
5. Invasive Cryptococcus laurentii disease in a 9-year-old boy with X-linked
hyperimmunoglobulin M syndrome
Melinda Erdős, Gábor Simon, László Maródi, Debrecen-Székesfehérvár, Hungary
6. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome
Vera Gulácsy, Tomas Freiberger, Anna Shcherbina, Malgorzata Pac, Liudmyla
Chernyshova, Tadej Avcin, Irina Kondratenko, Larysa Kostyuchenko, Tatjana
Prokofjeva, Srdjan Pasic, Ewa Bernatowska, Necil Kutukculer, Jelena Rascon, Nicolae
Iagaru, Cinzia Mazza, Beata Tóth, Melinda Erdős, Mirjam van der Burg, Lászlo Maródi,
the J Project Study Group
7. Clinical and laboratory features and outcome of MHC class II deficiencies
Gökalp Bolkent, Şule Haskoloğlu, Funda Erol Çipe, Zülfikar Akelma, Sevda Çam, Deniz
Güloğlu Ankara, Turkey
8. Late-onset purine nucleoside phosphorylase deficiency with spastic paraplegia
Fatih Celmeli, Antalya, Turkey
9. Screening Di George syndrome among patients with congenital cardiopathies
Esra Toprak Kanık, Neslihan Edeer Karaca, Ertürk Levent, Özge Altun Köroğlu, Emin
Karaca, Ferda Özkınay, Güzide Aksu, İzmir, Turkey
10. Di George syndrome: where do we stand now?
Małgorzata Pac, Malgorzata Skomska, Warsaw, Poland
11. SCID: analysis of 17 Latvian patients
Tatjana Prokofjeva, Riga, Latvia
12. CVID – from T cell dysfunction to B cell disorder
Snejina Mihailova Kandilarova, Nevena Gesheva, Spaska Lisichkova, Anastassia
Mihaylova, Elissaveta Naumova, Sofia, Bulgaria
13. Clinical eterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, Xlinked: pulmonary involvement as a non-classical disease manifestation
Safa Baris, Ilka Schulze, Ahmet Oguzhan Ozen, Elif Karakoc Aydiner, Emel Altuncu,
Gulsun Tezcan Karasu, Nilufer Ozturk, Thomas Vraetz, Stephan Ehl, Isil B Barlan,
Istanbul, Turkey
14. Our experience in screening for SCID in Egyptian infants using TRECs
Radwa Alkady, Aisha Elmarsafy, Nermeen Galal, Mei W. Baker, Cairo, Egypt
15. Outcome of patients with Severe Combined Immunodeficiencies (SCID) in Slovakia.
Peter Čižnár, Julia Horáková, Peter Švec, Ivana Boďová, Sabina Šufliarska, Bratislava,
Slovakia
16. A case of Good’s syndrome associated with thymoma.
Sabahattin Karakaya, Sara Şebnem Kılıç Gültekin, Bursa, Turkey
17. HLH : two cases with unusual presentations
Mohamed Almalky, Sanaa Abdelsalam, Maher Borai, Zagazig, Egypt
18. Economic efficiency of screening of newborns in the Ural region
Mikhail Bolkov, Irina Tuzankina, Grigoriy Tsaur
19. Chediak-Higashi syndrome initially presented as accelerated phase with EpsteinBarr Virus infection
Tooba Momen, Isfahan, Iran
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20. Hyper IgM syndrome as presenting sign of Ataxia Telangiectasia and AT like
diseases
Zahra Chavoshzadeh, Tehran, Iran
21. CD40L mutation in a case with Hyper IgM Syndrome
Iraj Mohammadzadeh, Babol, Iran
22. DOCK8 deficiency: a single unique case
Yaryna Romanyshyn, Larysa Kostyuchenko, Ihor Savchak, Lviv, Ukraine
13 March, 2014
Early bird symposium
Supported by an educational grant from Baxter
Chairs:
7:45-8:05
8:05-8:25
8:25-8:45
Reinhold Schmidt, Hanover
Stephen Jolles, Cardiff
Patients’ needs and wants
Jose Drabwell, London, UK
Established treatment options – the good and bad of IVIG and SCIG
Jiri Litzman, Brno, Czech Republic
Potential new options in IG delivery: facilitated subcutaneous IG therapy
Stephen Jolles, Cardiff, UK
JP SESSION 1
Adaptive immune deficiencies I.
Chairs:
9:00-9:20
Irina Tuzankina, Ekaterinburg
Jiri Litzman, Brno
Necil Kütükçüler, Izmir
Sergey Nejentsev, Cambridge
Novel agammaglobulinemia genotypes
Mary Ellen Conley, Memphis, TN
9:20-9:40
Activated phosphoinositide 3-kinase δ syndrome
Sergey Nejentsev, Cambridge, UK
9:40-9:55
Immunodeficiency due to CD19 mutations
Ismail Reisli, Konya, Turkey
9:55-10:10
Clinical and molecular characteristics of 200 Iranian CVID patients
Asghar Aghamohammadi, Tehran, Iran
10:10-10:30 PIk3cd deficiency
Gulbu Üzel, Bethesda, MD
10:30-10:40 Class switch recombination defects and unique cases of CD40 and CD40L
deficiencies
Necil Kütükçüler, Izmir, Turkey
10:40-10:50 Progressive degenerative damage of the central nervous system in X-linked
agammaglobulinemia patients
Irina Tuzankina, Ekaterinburg, Russia
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10:50-11:00 HSCT for severe autoimmune and autoinflammatory syndromes in children
Mario Abinun, Newcastle upon Tyne, UK
11:00-11:30
COFFEE
JP SESSION 2
Immunoglobulin replacement therapy
Chairs:
11:30-11:45
11:45-12:00
12:00-12:15
12:15-12:30
12:30-12:40
12:40-12:50
12:50-13:00
13:00-14:00
Tatyana Latisheva, Moscow
Liudmyla Chernishova, Kiev
Yıldız Camcıoğlu, Istanbul
Peter Spath, Bern
IVIG/SCIG replacement: the golden standard of treatment
Vincent R Bonagura, New York, NY
Chances and limitations of Ig replacement in the care of patients with CVID
Klaus Warnatz, Freiburg, Germany
IVIG treatment of patients with CVID and agammaglobulinemia
Tatyana Latysheva, Moscow, Russia
GWAS analyses in CVID patients
Reinhold Schmidt, Hannover, Germany
Clinical and immunological efficacy of SCIG treatment of children and
adults
Anna Szaflarska, Cracow, Poland
Clinical study of a novel 10% intravenous immunoglobulin preparation
Gergely Kriván, Budapest, Hungary
Hospital screening for antibody deficiencies
Krista Ress, Tallinn, Estonia
LUNCH
JP SESSION 3
Adaptive immune deficiencies II.
Chairs:
14:00-14:20
14:20-14:40
Ewa Bernatowska, Warsaw
Aydan İkincioğulları, Ankara
Elissaveta Naumova, Sofia
Sergio Rosenzweig, Bethesda, MD
Novel combined immunodeficiency genotypes
Stuart Tangye, Sydney, Australia
Nijmegen Breakage syndrome: long-term outcome and treatment
Beata Wolska-Kuśnierz, Warsaw, Poland
14:40-15:00 CVID – from T cell dysfunction to B cell disorder
Elissaveta Naumova, Sofia, Bulgaria
15:00-15:20 Moreau strain BCG disease in 60 SCID and other Polish patients - 30 years
of experience
Ewa Bernatowska, Malgorzata Pac, Warsaw, Poland
15:20-15:30 SCID before and after neonatal BCG vaccination in Slovakia
Peter Čižnár, Bratislava, Slovakia
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15:30-15:40
T and B cell development in DiGeorge syndrome
Adam Klocperk, Prague, Czech Republic
15:40-15:50 How should we treat patients with TAP deficiency
Figen Dogu, Ankara, Turkey
15:50-16:00 CD25 deficiency: Clinical and laboratory features
Aydan İkincioğulları, Ankara, Turkey
16:00-16:30
TEA
JP SESSION 4
PID research in the South Hemisphere and Asia
16:30-18:00
16:30-16:45
16:45-17:00
17:00-17:10
17:10-17:20
17:20-17:30
17:30-17:40
17:40-17:50
17:50-18:00
20:00-21:30
Chairs: Aisha Elmarsafi, Cairo
Olcay Yeğin, Antalya
Nurzan Otarbayev, Astana City
Lokman M Noh, Kuala Lumpur
PID network research development in Latin-America
Ricardo Sorensen, New Orleans, LA
The “A” Project research collaboration program in Africa
Ahmed Aziz Bousfiha, Casablanca, Marocco
Opportunities for finding PID in the HIV and Tb epidemic
Monika Esser, Cape Town, South Africa
PID care and research in Saudi-Arabia
Hamoud Al-Mousa, Riyadh, Saudi Arabia
PID as an evolving area of medical research in India
Surjit Singh, Chandigarh, India
Exome sequencing in the Asian PID Network
Yu-Lung Lau, Hong Kong, China
Developing PID care in Central-Asia: The J Central Asia Project
Elena Kovzel, Astana City, Kazakhstan
Primary immunodeficiency in Malaysia: Present status and future direction
Lokman M Noh, Kuala Lumpur, Malaysia
SOCIAL PROGRAM and J PROJECT POSTER SESSION II.
POSTERS SESSION II.
B CELLS
Chairs:
Yu-Lung Lau, Hong Kong
Krista Ress, Tallinn
Areg Totolian, St. Petersburg
Anne Durandy, Paris
Lennart Hammarström, Stockholm
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1. FCRN analysis in primary antibody deficiencies
Tomas Freiberger, Brno, Czech Republic
2. Recurrent wheezing and hypogammaglobulinemia during infancy
Ozdemir Oner, Bozdogan Sila, Sakarya, Turkey
3. A clinical syndrome of elevated serum IgM, massive splenomegaly and recurrent
lower respiratory tract infection in an adult patient
Şengül Aksakal, Nihal Mete, Aytül Sin, Okan Gülbahar, Ali Kokuludağ, Ömür Ardeniz,
İzmir, Turkey
4. Rheumatoid arthritis, sclerosing cholangitis and recurrent thymoma in an adult
CVID patient
Rabia Bilge Özgül Özdemir, Nihal Mete, Aytül Sin, Okan Gülbahar, Ali Kokuludağ,
Ömür Ardeniz, İzmir, Turkey
5. B cell subsets in isolated IgM deficiency
Deniz Güloğlu, Funda Erol Çipe, Senem Koçak, Şule Haskoloğlu, Caner Aytekin, Figen
Doğu, Aydan İkincioğulları Ankara, Turkey
6. Steroid resistant idiopathic thrombocytopenic purpura in a patient with CVID
Sait Yeşillik, Uğur Muşabak, Abdullah Baysan, Fevzi Demirel, Özgür Kartal, Mustafa
Güleç, Osman Şener, Ankara, Turkey
7. Evaluation of bronchiectasis in PID patients
İbrahim Cemal Maslak, Ayşen Bingöl, Tuba Turul Özgür, Olcay Yeğin, Akdeniz
Üniversitesi, Antalya, Turkey
8. A case of common variable immune deficieny associated with hemolytic anemia
Mehtap Haktanır Abul, Zekiye İlke Kılıç Topçu, Fazıl Orhan, Trabzon, Turkey
9. Selective immunoglobuline M deficiency associated with angioedema
Zekiye İlke Kılıç Topçu, Mehtap Haktanır Abul, Fazıl Orhan, Trabzon, Turkey
10. Autoimmune hepatitis and scleroderma in a patient with X‐linked
agammaglobulinaemia
Mustafa Yılmaz, Gülbin B Karakoç, Derya Ufuk Altıntaş, Aylin Kotil, Adana, Turkey
11. B cell lymphopenia and lymphadenitis in a newborn infant
Şükrü Nail Güner, Esra Hazar Sayar, Mukaddes Ağırtıcı, İsmail Reisli, Konya, Turkey
12. The effect of IVIG therapy on specific antibody responses in children with transient
hypogammaglobulinemia of infancy
Elif Azarsız, Neslihan Edeer Karaca, Güzide Aksu, Necil Kütükçüler, İzmir, Turkey
13. Chronic inflammatory disease in patients with sIgAD and CVID
Zoltán Ellenes, Ilona Kovács, Mihaela Bataneant, Maria Cucuruz, Margit Serban, László
Maródi, Oradea-Timisoara-Debrecen, Romania-Hungary
14. Selective IgA deficiency: analysis of 100 Latvian patients
Tatjana Prokofjeva, Riga, Latvia
15. PID - Common manifestations of rare diseases
Marina Karakina, Irina Tuzankina, Ekaterinburg, Russia
16. A case with absence of B lymphocytes
Hülya Özdemir, Hasibe Artaç, Onur Ural, Hakan Karabağlı, A. Zafer Çalışkaner,
Konya, Turkey
17. Bronchiectasis and immundeficiency
Mustafa Güleç, Fevzi Demirel, Uğur Muşabak, Özgür Kartal, Sait Yeşillik, Abdullah
Baysan, Ergün Uçar, Osman Şener, Ankara, Turkey
18. SCIG replacement in 7 Hungarian patients: A single center observation
Vera Gulácsy, László Maródi, Debrecen, Hungary
19. Is the level of IgA associated with disease severity in children with Atopic Dermatatis?
Nazlı Çörüt, İlknur Bostancı, Serap Özmen, Ayşegül Ertuğrul, Şener Keleş, Ankara, Turkey
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20. Evaluation of humoral deficiencies in children with bronchiectasis
İlknur Bostancı,Şennur Keleş, Serap Özmen, Nazlı Cörüt. Ankara, Turkey
21. Autoimmune diseases in patients with primary antibody deficiencies
Sirje Velbri, Mirja Varik, Tallinn, Estonia
22. Lymphocyte subgroups in patients with common variable immunodeficiency
Liisa Kuhi, Marge Kütt, Mare Suigom, Krista Ress, Tallinn, Estonia
23. C-hepatitis in common variable immunodeficiency
Krista Ress, Triin Remmel, Eero Semjonov, Tallinn, Estonia
24. Pulmonary changes in primary antibody deficiencies
Krista Ress, Mare Suigom, Tallinn, Estonia
25. Efficacy, safety and tolerability of recombinant human hyaluronidase (rHuPH20)facilitated subcutaneous (SC) infusion of immunoglobulin G (IGSC) (IGHy) in adult
patients with primary immunodeficiencies (PI): Phase 3 study results
Mark R. Stein, North Palm Beach, Richard L. Wasserman,
Dallas, Isaac Melamed, Centennial,Arye Rubinstein, Bronx, Jennifer Puck, San
Francisco, Sudhir Gupta, Irvine, Werner Engl, Vienna, Heinz Leibl, Vienna, Barbara
McCoy, Austria; Leman Yel, Westlake Village, Richard I. Schiff,
Westlake Village, and the rHuPH20-facilitated IGSC Study Group
FL-TX-CO-NY-CA, USA, Austria.
26. Safety and pharmacokinetics (PK) of recombinant human hyaluronidase
(rHuPH20)-facilitated subcutaneous (SC) infusion of immunoglobulin G (IGSC)
(IGHy) in adult patients with primary immunodeficiencies (PI): Extension study of
a phase 3 pivotal trial
Isaac Melamed, Centennial, Richard L. Wasserman,Dallas, Mark R. Stein, North Palm
Beach, Arye Rubinstein, Bronx, Jennifer Puck, San Francisco, Sudhir Gupta, Irvine,
Werner Engl, Vienna, Heinz Leibl, Vienna, Leman Yel, Westlake Village,
Richard I. Schiff, Westlake Village, and the IGSC, 10% rHuPH20 Study Group, CO-TXFL-NY-CA, USA, Austria
27. Safety, tolerability and pharmacokinetics (PK) of human immune globulin
subcutaneous, 20% (IGSC 20%): Interim analysis of a phase 2/3 study in patients with
primary immunodeficiencies (PI)
Gergely Kriván, Budapest, Michael Borte, Leipzig, László Maródi, Debrecen, Beata
Dérfalvi, Budapest, Ferenc Dicső, Nyíregyháza, Werner Engl, Vienna, Heinz Leibl,
Vienna, Barbara McCoy, Vienna, Richard I. Schiff, Westlake Village, Leman Yel,
Westlake Village, and the 20% IGSC Study Group, Hungary-Germany-Austria-USA
28. Pharmacoeconomics of IVIg treatment in antibody immunodeficiencies
Irina Smirnova, Tatyana Kosacheva, Natalia Kuzmenko, Yulia Rodina, Anna Shcherbina,
Moscow, Russia
29. Subcutaneous immunoglobulin replacement in an adult with repeated systemic
reactions to intravenous applications. Tatyana Eštóková, Peter Čižnár, Zuzana
Kováčová, Bratislava-Prešov, Slovakia
30. „Per aspera ad astra“: Diagnosing common variable immunodeficiency and allergic
asthma in adolescent.
Velma Selmanović, Aida Dizdarević-Omerčahić, Senka Dinarević-Mesihović, Sarajevo,
Bosnia and Herzegovina
31. European consensus proposal for immunoglobulin therapies
Carrock Sewell, Brighton, Jacquelin Kerr, Emmanuelle Behr-Gross, Hans-Hartmut
Peter,Peter J. Späth, Isabella Quinti, Taco Kuijpers, Martha Eibl, Ivo van Schaik, Jose
Drabwell, Anna Sediva, Basil Golding, Mikko Seppänen, Abdulgabar Salama,
Langen-Strasbourg-Freiburg-Bern-Rome-Amsterdam-Vienna-Downderry-Prague-Silver
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Spring-Helsinki-Berlin; UK-Germany-France-Switzerland-Italy-The NetherlandsAustria-Czech Republic-USA-Finland.
32. Malignancies in CVID patients in a single referral center in Tehran
Rasool Molatefi, Tehran, Iran
33. Autoimmune and autoinflamatory disorders in CVID patients in Tehran
Mohammad Nabavi, Tehran, Iran
34. Chronic immune activation in CVID is associated with elevated serum levels of
soluble CD14 and CD25
Jiri Litzman, Jana Nechvatalova, Jun Xu, Marcela Vlkova, Zdenek Hel Brno, Czech
Republic
35. CVID patient with recurrent sinusitis and influenza viral infection
Marzieh Heidarzadech, Kashan, Iran
36. Pneumonia due to Acinetobacter lwoffii in a patient with X-linked
agammaglobulinemia
Mojgan Safari, Hamedan, Iran
37. Association of IgG1 subclass deficiency and chronic eosinophilic pneumonia
Sevgi Pekcan, Nevzat Başkaya, İsmail Reisli, Konya, Turkey
HSCT
Chairs:
Anna Szaflarszka, Cracow
Mario Abinun, Newcastle upon Tyne
Reinhard Seger, Zurich
Kaan Boztug, Viena
1. HSCT for patients with SCID: A single center experience
Deniz Çağdaş Ayvaz, Tuba Turul Özgür, Gülten Türkkanı Asal, Çağman Tan, Özden
Sanal, İlhan Tezcan, Ankara, Turkey
2. Immuno-reconstitution in the first three years after HSCT
Alişan Yıldıran, Stephan Borte, Samsun-Leipzig, Turkey-Germany
3. Food and respiratory allergy in patients after solid organ transplantation
Ozdemir Oner, Bozdogan Sila, Sakarya, Turkey
4. A single center experience of HSCT in Ankara
Zülfikar Akelma, Figen Doğu, Şule Haskoloğlu, Funda Çipe, Caner Aytekin, İsmail
Reisli, Mutlu Yüksek, Alişan Yıldıran, Sevda Çam, Metin Aydoğan, Deniz Güloğlu, Tanıl
Kendirli, Aydan İkincioğulları Ankara, Turkey
5. The use of mesenchymal stem cell infusions for the treatment of GvHD in PID
patients
Aydan İkincioğulları, Şule Haskoloğlu, Figen Doğu, Birsel Küçükersan, Ercüment Ovalı
Ankara, Turkey
6. Hematopoietic stem cell transplantation in primary immunodeficiencies: a single
center experience in Hungary between 1992-2014
Gergely Kriván, Budapest, Hungary
13
7. CD34+ stem cell enumeration in adult autologous HSCT
Tuğba Esra Pekcandanoğlu, Selda Keyik, Şeyma Çelikbilek Çelik, Esra Hazar Sayar,
Şükrü Nail Güner, İsmail Reisli, Konya, Turkey
14 March, 2014
JP SESSION 5
INNATE AND REGULATORY IMMUNE DEFECTS I.
Chairs:
09:00-09:20
09:20-09:40
09:40-10:00
10:00-10:10
10:10-10:20
10:20-10:30
10:30-10:40
10:40-10:50
10:50-11:00
11:00-11:30
Anastasia Bondarenko, Kiev
Georgina Kuli-Lito, Tirana
Peter Ciznar, Bratislava
Helen Su, Bethesda
DOCK8 regulation of skin immunity
Helen Su, Bethesda, MD
Aicardi-Goutières syndrome
Yanick J Crow, Manchester, UK
Primary OX40 deficiency and genetic etiologies of Kaposi sarcoma
Minji Byun, New York, NY
Novel STAT1 GOF mutations in ECE patients with CMCD
Beáta Soltész, Debrecen, Hungary
Different severity of phenotypes in patients with STAT1 gain-of-function
mutations
Alla Volokha, Kiev, Ukraine
The effect of GOF-STAT1 mutation on STAT3 function
Desa Lilic, Newcastle upon Tyne, UK
Anti-IL-17A antibodies, may be correlated with the severity of
mucocutaneous candidiasis in APECED patients
Adrien Sarkadi, Debreceni, Hungary
Regulatory T cells in a family with IPEX-like manifestations
Dalia Abd Elaziz, Cairo, Egypt
Hyperimmunoglobulinemia D syndrome in two children with periodic fever
Georgina Kuli-Lito, Tirana, Albania
COFFEE
JP SESSION 6
INNATE IMMUNE DEFECTS II.
Chairs:
11:30-11:50
11:50-12:10
Ozden Sanal, Ankara
Sophie Hambleton, Newcastle upon Tyne
Michail Belevtsev, Minsk
Jean-Laurent Casanova, Paris-New York
STAT2 deficiency
Sophie Hambleton, Newcastle upon Tyne, UK
Challenges of HSCT to treat patients with phagocytic cell defects
Reinhard Seger, Zurich, Switzerland
14
12:10-12:20
12:20-12:30
12:30-12:50
12:50-13:00
13:00-14:00
Chronic mild neutropenia revealing MonoMac syndrome
Mihaela Bataneant, Timisoara, Romania
Lung and brain aspergillosis in a patient with AR CGD
Anastasia Bondarenko, Kiev, Ukraine
HIES genotypes and phenotypes
Bodo Grimbacher, Freiburg, Germany
Autosomal recessive HIES
Ozden Sanal, Ankara, Turkey
LUNCH
JP SESSION 7
MISCELLANEOUS
14:00-15:00
Chairs:
Anna Shcherbina, Moscow
Mihaela Bataneant, Timisoara
Hans Ochs, Seattle
Bodo Grimbacher, Freiburg
14:00-14:10
Novel and recurrent WASP mutations in Eastern and Central European
patients with WAS
Vera Gulácsy, Debrecen, Hungary
14:10-14:25 Thrombopoietin therapy in WAS
Anna Shcherbina, Moscow, Russia
14:25-14-35 Characterizations of CGD patients in Turkey
Yavuz Köker, Kayseri, Turkey
14:35-14:50 Glycosylation defects, hypogammaglobulinemia and resistance to viral
infections
Sergio Rosenzweig, Bethesda, MD
14:50-15:00 Mitochondrial pathology in autoinflammatory disorders
Anna Sediva, Prague, Czech Republic
15:00-16:00
TEA and J PROJECT POSTER SESSION III.
POSTERS SESSION III.
PID SYNDROMES
Chairs:
Gulnara Nasrullayeva, Baku
Anna Villa, Milan
Monika Esser, Cape Town
Surjit Singh, Chandigarh
Stuart Tangye, Sydney
1. Histological findings in ALPS patients
Irina Kondratenko, Dmitry Rogozhin, Olga Paschenko, Andrey Bologov, Moscow, Russia
15
2. Kimura disease in a patient with the Wiscott-Aldrich syndrome
Irina Tuzankina, Yelena Vlasova, Anna Scherbina, Ekaterinburg-Moscow, Russia
3. Unusual presentations of PID
Marina Karakina, Ekaterinburg, Russia
4. Wiskott-Aldrich syndrome: report on a unique case
Gulnara Nasrullayeva, Baku, Azerbaijan
5. Two brothers with Wiskott-Aldrich syndrome
Maleyka Karimova. Amaliya Ayyubova, Ibrahimova Shalala, Gulnara Nasrullayeva.
Baku, Azerbaijan
6. Lymphocyte subsets in patients with ataxia-telengiectasia
Halil Çeliksoy, Samsun, Erdem Topal, Malatya, Alişan Yıldıran, Samsun, Turkey
7. Unusual clinical presentation of ataxia-telengiectasia in two siblings
Alişan Yıldıran, Samsun, Türkiye, Stephan Borte, Leipzig, Germany
8. The lack of WASP gene and multiple food allergy in a Wiskott-Aldrich syndrome
patient
Nurşen Ciğerci Gunaydın, Esen Demir, Vera Gulácsy, László Maródi, Remziye Tanac,
Necil Kütükçüler, İzmir-Debrecen, Turkey-Hungary
9. Unique ocular findings in a patient with 22q11.2 deletion syndrome
Gokturk Bahar, Bozkurt Bozkurt, Reisli Ismail, Konya, Turkey
10. Delayed diagnosis of NBS in an adult patient presenting with recurrent infections
from childhood
Zeynep Peker Koç, Emin Karaca, Nihal Mete, Aytül Sin, Okan Gülbahar, Ali Kokuludağ
,Ömür Ardeniz, İzmir, Turkey
11. STK-4 deficiency among patients with autosomal recessive HIES phenotype
Sevil Oskay Halacli, Deniz Cagdas Ayvaz, Cagman Tan, Elif Uz, İlhan Tezcan, Nurten
Akarsu, Ozden Sanal, Ankara, Turkey
12. IVSIO+1 G>A and IVS9+1>C splicing mutations in WASP gene
Ayşenur Öztürk, Figen Doğu, Seda Tasır Yılmaz, Hilal Özdağ, Aydan İkincioğulları,
Ankara, Turkey
13. WHIM syndrome without hypoglobulinaemia and without warts
Kristina Mironska, Katarina Stavric, Lidija Kareva, Arijeta Hasani, Skopje, Rep. of
Macedonia
14. FMF case report of five patients in Macedonia
Kristina Mironska, Katarina Stavric, Lidija Kareva, Arijeta Hasani, Skopje, Rep. of
Macedonia
15. The value of mean platelet volume/platelet count ratio to predict 22q11.2 deletion
syndrome
Bahar Gokturk, Sukru Nail Guner, Reyhan Kara, Mine Kırac, Sevgi Keles, Hasibe Artac,
Ismail Reisli, Konya, Turkey
16. Autosomal Recessive Hyper IgE Syndrome: a single-centre study
Gülez N, Genel F, Erdem Bahçeci S, Nacaroğlu HT, Ünsal Karkiner CS, Can D. Izmir,
Turkey
17. Long term follow-up in the patient with hyper-IgE syndrome with support of
intravenous immunoglobulins
Kralickova Pavlina, Freiberger Tomas, Hradec Králové, Czech republic
18. Clinical and genetic review of patients with STAT3 deficiency in Slovakia.
Linda Libai Véghová, Hana Kayserová, Daniela Mlčochová, Tomas Freiberger, Peter
Čižnár, Bratislava-Brno, Slovakia-Czech Republic
19. Clinical spectrum and molecular diagnosis of Shwachman-Diamond syndrome in
three Croatian families
Ana Merkler, Jadranka Kelecic, Dorian Tjesic-Drinkovic,Ivo Baric, Jurica Vukovic,
16
Vladimir Sarnavka, Ernest Bilic, Lana Omerza, Mario Cuk, Danijela Petkovic-Ramadza,
Jadranka Sertic, Zagreb, Croatia
20. Di George syndrome: a case report
Liudmila Cerempei, Ludmila Bologa, Chisinau, Republic of Moldova
21. Congenital heart defects in Di George syndrome
Senka Mesihović Dinarević, Emina Vukas, Sarajevo, Bosnia and Herzegovina
22. Papillon-Lefevre syndrome in a 10 years old girl
Sadeghi Shabestari, Tehran, Iran
23. Clinical and immunological features of two patients with Nijmegen breakage
syndrome
Snejina Mihailova, Nevena Gesheva, Daniela Avdjieva-Tzavella, Radka Tincheva,
Elissaveta Naumova, Sofia, Bulgaria
19. Functional characterization of the novel 137+5G>A splice donor site mutation in the
SH2D1A gene
Beáta Tóth, Gabriella Csorba, Veres Ágota, István Balogh, Árpád Lányi, Melinda Erdős,
László Maródi, Debrecen, Hungary
20. Molecular characteristics, clinical and immunological manifestation of Omenn
syndrome in Eastern Slavs
Svetlana Sharapova, Irina Guryanova, Olga Pashchenko, Larisa Kostyuchenko,
Anastasiia Bondarenko, Marina Guseva, Liudmyla Chernyshova, Irina Kondratenko
Aleinikova Olga, Michael Belevtsev, Minsk-Moscow-St. Petersburg-Lviv-Kiev,BelarusRussia-Ukraine
21. Clinical polymorphism in patients with the syndrome of Nijmegen
Alexander Pishchalnikov; Tatiana Shilova, Tatiana Moiseeva, Chelyabinsk, Russia
22. Clinical and biological variability in 3 cases of ALPS
Maria Cucuruz, Mihaela Bataneant, Estera Boeriu, Irina Ghenea, Anca Popoiu, Mihaela
Baica, Margit Serban, Timisoara, Romania
INNATE IMMUNITY
Chairs:
Alla Volokha, Kiev
Desa Lilic, Newcastle
Velma Selmanovic, Sarajevo
Ricardo Sorensen, New Orleans
1. Invasive pneumococcal disease in a 6-year-old child with IRAK4 deficiency and
anti-polysacharide
Melinda Erdős, Chung Lung-Ku, Xavier Bossuyt, Jean-Laurent Casanova, DebrecenBrussels-New York, Hungary-Belgium-USA
2. Dectin-1-mediated immunity is redundant for host defense against mucocutaneous
candidiasis
Beáta Tóth, Péter Gogolák, Szilvia Taskó, Alexandra Bársony, László Maródi, Debrecen,
Hungary
3. Hepatic variant of chronic granulomatous disease
17
Melinda Erdős, Annamária Székely, Mózes Péter, Beáta Tóth, László Maródi, Debrecen,
Hungary
4. ELANE gene mutations in Hungarian patients with neutropenia
Beáta Tóth, Gabriella Csorba, Melinda Erdős, László Maródi, Debrecen, Hungray
5. Type 1 C2 deficiency in a boy with recurrent bacterial infections
Beáta Tóth, Melinda Erdős, Gabriella Csorba,Miklós Szolnoky, László Maródi,
Debrecen-Budapest, Hungray
6. CGD patients treated with interferon-γ in Turkey
Serkan Filiz, Dilara Fatma Kocacık Uygun, Antalya, Turkey
7. An infectological challenge: Brain abscess in CGD
Krisztina Kalocsai, Budapest, Hungary
8. Early diagnosis of chronic granulomatous disease
Alexander Pishchalnikov; Tatiana Shilova, Tatiana Moiseeva, Chelyabinsk, Russia
9. Chronic granulomatous disease: report of 2 cases
Adriana Apostol, Elene Leu, Mirela Epure, Giorgiana Popa, Constanta, Romania
10. Early diagnoses of leukocyte adhesion molecule deficiency type-1
Şükrü Nail Güner, Esra Hazar Sayar, Melike Emiroğlu, İsmail Reisli, Konya, Turkey
11. Eye infections as presenting manifestations of chronic granulomatous disease
Esra Hazar Sayar, Şükrü Nail Güner, Mine Kıraç, Melike Emiroğlu, İsmail Reisli,
Konya, Turkey
12. Presentation of interleukin-12/23 receptor beta1 deficiency with varying clinical
symptoms
Deniz Çağdaş Ayvaz, Çağman Tan, Ayşe Metin, Özlem Keskin, Mehmet Yaşar Özkars,
Özden Sanal, İlhan Tezcan, Ankara, Turkey
13. Salmonella enteritidis infection associated with cutaneous leukocytoclastic vasculitis
in a patient with IL-12R β1 deficiency
Dilara Fatma Kocacık Uygun, Serkan Filiz, Antalya, Turkey
14. Rare disease manifestations in a case with complete interferon-gamma receptor-1
deficiency
Neslihan Edeer Karaca, Stephanie Boisson Dupuis, Guzide Aksu, jackinta Bustamante
Jean-Laurent Casanova, Necil Kütükçüler, İzmir, Turkey
15. C8 deficiency with or without recurrent meningitis in a Turkish family
Nesrin Gulez, Ferah Genel, İzmir, Turkey
16. Chronic mucocutaneous candidiasis, autoimmune thyroiditis, cerebral mycotic
aneurism and STAT1 GOF mutation
Ayça Kiykim, Elif Karakoc Aydiner, Ahmet Oguzhan Ozen, Safa Baris, Tulay Guran,
Steven M. Holland, Isil Barlan, Istanbul, Turkey
17. Phenotype – genotype relationship in severe congenital neutropenia patients
Safa Baris, Elif Karakoç-Aydiner, Ayca Kiykim, Havva Hasret Cagan, Kaan Boztug, Isil
Barlan, Istanbul, Turkey
18. The evaluation of patients with chronic granulomatous gisease
Safa Baris, Ahmet Oguzhan Ozen, Ayca Kiykim, Ezgi Gizem Yuce, Elif Karakoc –
Aydiner, Isil Barlan, Istanbul, Turkey
17. Vertebral osteomyelitis due to Aspergillus nidulans in a patient with chronic
granulomatous disease
Şükrü Çekîç, Demet Hafizoglu, S. Şebnem Kilic Gultekin. Bursa, Turkey
18. Enigmas of primary immunodeficiency and Mycobacterial infection in Iran
Roya Sherkat, Isfahan, Iran
23. Use of the stimulated NBT reduction slide test for prenatal detection of chronic
granulomatous disease – a case report.
Goran Ristic, Srdjan Pasic, Bojana Slavkovic, Belgrade, Serbia
18
24. Presentation of interleukin-12/23 receptor beta1 deficiency with varying clinical
symptoms
Deniz Çağdaş Ayvaz, Çağman Tan, Ayşe Metin, Özlem Keskin, Mehmet Yaşar Özkars,
Özden Sanal, İlhan Tezcan, Ankara, Turkey
25. Recurrent infections due to uncontrolled proliferation and activation of Tlymphocytes, NK-cells, and macrophages
Mohammad Hassan Bemanian, Tehran, Iran
19
JP SESSION 8
THE ANTALYA DECLARATION
16:00-16:30
Chairs:
László Maródi, J PROJECT
Ismail Reisli, J DAUGHTER ANATOLIA PROJECT
Amos Etzioni, ESID
Jean-Laurent Casanova, JoCI
Jose Drabwell, IPOPI
Representative of WHA (TBA)
16:00-16:05
THE ANTALYA DECLARATION FOR PID PATIENTS
16:05-16:15
Signature of the Declaration by Government representative
Sema Özbaş, Head, Department of Child and Adolescent Health, Government of
Turkey, Ankara, Turkey
16:15-16:30
Closing remarks
16:30-17:40 FAREWELL TURKISH-OTTOMAN CULTURAL PROGRAM
BACK TO BACK MEETINGS
The 101st J Project meeting: Case report presentations from Turkey
Further information: Ismail Reisli, Konya, Turkey ([email protected])
IPOPI Meeting with National Member Organizations in Eastern and
Central Europe
Further information: Johan Prevot, IPOPI ([email protected])
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2009 – ADLÎ YARGI HÂKİM VE SAVCI ADAYLIĞI BAŞVURU FORMU