1
2004-2014
Announcement of the
100th J Project Meeting
12-15 March 2014
Rixos Lares Hotel, Lara, Antalya, Turkey
Contact: Zsuzsa Horváth ([email protected])
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Preliminary PROGRAM
12 March 2014
10:00-18:45
Registration
18:45-19:15
Welcome addresses
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
Ismail Reisli, Leader, J Daughter Anatolia Project
László Maródi, Leader, J Project
19:15-20:15
SESSION 1: 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 VINE WELCOME RECEPTION and
J PROJECT POSTER SESSION I.
POSTERS SESSION I.
PID registries and databases
Chairs:
Anna Sediva, Prague
Elissaveta Naumova, Sofia
Marina Guseva, St. Petersburg
1. Epidemiological and genetic features of PID in children in Belarus
Mikhail Belevtsev, Minsk, Belarus
2. Update of PID activities in Iran
Nima Rezaei, Asghar Aghamohammadi, Tehran, Iran
3. 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
4. Polish registry of primary immunodeficiency
Malgorzata Pac, Malgorzata Skomska, and the Polish Working Group for Primary
Immunodeficiencies
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5. 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
6. Primary immunodeficiencies in childhood and adults: The Siberian PID registry
Irina Tuzankina, Yelena Vlasova, Marina Karakina, Evgeniya Bass, Ekaterinburg,
Russia
7. National PID registry in Ukraine
Liudmyla Chernyshova, Anastasia Bondarenko, Alla Volokha, Kiev, Ukraine
8. Registered PID patients in Zonguldak
Mutlu Yüksek, Zonguldak, Turkey
9. Adult PID patients in a newly established immunology/allergy division in Konya
Caliskaner Zafer, Arslan Sevket, Konya, Turkey
10. Registered PID patients between 2006 and 2013 in Gaziantep
Özkars Mehmet, Antep, Turkey
11. The spectrum of primary immunudeficiency disorders: 3 year experince in a single
center
Fazıl Orhan, Zekiye İlke Kılıç Topçu, Mehtap Haktanır Abul, Trabzon, Turkey
12. 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
13. Education and PID awareness among medical students
Nesrin Reisli, İsmail Reisli, Konya, Turkey
14. Adult PID screening program in out-patient settings
Arslan Sevket, Caliskaner Zafer, Konya, Turkey
15. Clinical and genetic features of CGD in ECE countries
Gasper Markelj, Ljubljana, Slovenia
16. MEFV carrier rate in ECE countries
Marusa Debeljak, Ljubljana, Slovenia
17. Nijmegen breakage syndrome in Ukraine: frequency, medical support and
follow-up
Ihor Savchak, Lviv, Ukraine
18. The expanding spectrum of PID: data from the Slovenian PID registry
Stefan Blazina, Ljubljana, Slovenia
19. PID in Bulgaria: results of the Bulgarian Association of Clinical Immunology
initiatives
Elisavetta Naumova, Marta Baleva, Iskra Altankova, Mariana Murdjeva. Sofia, Bulgaria
20. Pediatric PID patients care – single centre experience
Guergana Petrova Stoyanova, Penka Ilieva Perenovska, Snejina Mihailova Kandilarova,
Elissaveta Naumova, Sofia, Bulgaria
21. 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
22. Prenatal genetic diagnosis of PID in 20 families
Gabriella Csorba, Beáta Tóth, Melinda Erdős, Alexandra Bársony, Maródi László,
Debrecen, Hungary
23. Adverse events following IVIG in Egyptian children
Shorouk Abdallah, Aisha Marsafy, Jeanette Azmy, Nermeen Galal, Dalia Salah, Radwa
Alkady, Egypt
24. 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
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25. Croatian PID database
Jadranka Kelecic, Darko Richter, Nevenka Cigrovski, Dorian Tjesic-Drinkovic, Zagreb,
Croatia
13 March, 2014
Breakfast Symposium - Baxter
7:45-8:45
SESSION 1
Adaptive immune deficiencies I.
Chairs:
9:00-9:15
9:15-9:25
9:25-9:40
9:40-09:50
09:50-10:00
10:00-10:10
10:10-10:25
10:25-10:40
10:40-10:50
10:50-11:05
Irina Tuzankina, Ekaterinburg
Jiri Litzman, Brno
Necil Kütükçüler, Izmir
Novel agammaglobulinemia genotypes
Mary Ellen Conley, Memphis, TN
Immunodeficiency due to CD19 mutations
Ismail Reisli, Konya, Turkey
Update on CVID and IgA deficiency
Lennart Hammarström, Stockholm, Sweden
Chronic immune activation in CVID is associated with elevated serum levels
of soluble CD14 and CD25
Jiri Litzman, Brno, Czech Republic
Clinical and molecular characteristics of 200 Iranian CVID patients
Asghar Aghamohammadi, Tehran, Iran
Progressive degenerative damage of the central nervous system in X-linked
agammaglobulinemia patients
Irina Tuzankina, Ekaterinburg, Russia
Recent advances in understanding immunoglobulin class switch deficiencies
Anne Durandy, Paris, France
Activated phosphoinositide 3-kinase δ syndrome
Sergey Nejentsev, Cambridge, UK
Class switch recombination defects and unique cases of CD40 and CD40L
deficiencies
Necil Kütükçüler, Izmir, Turkey
Genetic forms of Omenn syndrome
Anna Villa, Milan, Italy
11:05-11:30 COFFEE
SESSION 2
Immunoglobulin replacement therapy
Chairs:
Yıldız Camcıoğlu, Istanbul
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Peter Ciznar, Bratislava
Tatiana Latysheva, Moscow
11:30-11:45
11:45-12:00
12:00-12:15
12:15-12:25
12:25-12:35
12:35-12:50
12:50-13:00
IVIG/SCIG replacement: the golden standard of treatment
Vincent R Bonagura, New York, NY
IVIG treatment of patients with CVID and agammaglobulinemia
Tatiana Latysheva, Moscow, Russia
Chances and limitations of Ig replacement in the care of patients with CVID
Klaus Warnatz, Freiburg, Germany
Clinical and immunological efficacy of SCIG treatment of children and
adults
Anna Szaflarszka, Cracow, Poland
Clinical study of a novel 10% intravenous immunoglobulin preparation
Gergely Kriván, Budapest, Hungary
Specific antibody deficiencies with normal immunoglobulins
Ricardo Sorensen, New Orleans, LA
Hospital screening for antibody deficiencies
Krista Ress, Tallinn, Estonia
13:00-14:00 LUNCH
SESSION 3
Adaptive immune deficiencies II.
Chairs:
14:00-14:20
Ewa Bernatowska, Warsaw
Aydan İkincioğulları, Ankara
Novel combined immunodeficiency genotypes
Stuart Tangye, Sydney, Australia
14:20-14:40 Nijmegen Breakage syndrome: long-term outcome and treatment
Beata Wolska-Kuśnierz, Ihor Savchak, Warsaw-Lviv, Poland-Ukraine
14:40-15:00 BMT/HSCT: a success story of treating PID patients
Andrew Cant, Newcastle upon Tyne, UK
15:00-15:10 T and B cell development in DiGeorge syndrome
Adam Klocperk, Prague, Czech Republic
15:10-15:20 SCID before and after neonatal BCG vaccination in Slovakia
Peter Ciznar, Bratislava, Slovakia
15:20-15:30 Moreau strain BCG disease in 60 SCID and other Polish patients - 30 years
of experience
Ewa Bernatowska, Malgorzata Pac, Warsaw, Poland
15:30-15:40 Functional characterization of the novel 137+5G>A splice donor site
mutation in the SH2D1A gene
Beáta Tóth, Debrecen, Hungary
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
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SESSION 4:
PID RESEARCH IN THE SOUTH HEMISPHERE AND SOUTH-ASIA
16:30-17:40
16:30-17:30
Chairs: Aisha El-Marsafi, Cairo
Olcay Yeğin, Antalya
Hamoud Al-Mousa, Riyadh
16:30-16:40
Latin-America
Ricardo Sorensen, New Orleans, LA
16:40-16:50 Africa
Ahmed Aziz Bousfiha, Casablanca, Marocco
16:50-17:00 India
Surjit Singh, Chandigarh, India
17:00-17:10 PID care and research in Saudi-Arabia
Hamoud Al-Mousa, Riyadh, Saudi Arabia
17:10-17:20 Australia/New Zeeland
Jane Peake, Brisbane, Australia
17:20-17:30 Exome sequencing in the Asian PID Network
Yu-Lung Lau, Hong Kong, China
17:30-17:40 Opportunities for finding PID in the HIV and Tb epidemic
Monika Esser, Cape Town, South Africa
20:00-21:30 SOCIAL PROGRAM and J PROJECT POSTER SESSION II.
POSTERS SESSION II.
B CELLS
Chairs:
Margorzata Pac, Warsaw
Krista Ress, Tallinn
Adrien Sarkadi, Debrecen
1. Recurrent wheezing and hypogammaglobulinemia during infancy
Ozdemir Oner, Bozdogan Sila, Sakarya, Turkey
2. 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
3. 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
4. B cell subsets in isolated IgM deficiency
Deniz Güloğlu, Funda Erol Çipe, Senem Koçak, Şule Haskoloğlu, Caner Aytekin, Figen
Doğu, Aydan İkincioğulları Ankara, Turkey
5. Steroid resistant idiopathic thrombocytopenic purpura in a patient with CVID
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Sait Yeşillik, Uğur Muşabak, Abdullah Baysan, Fevzi Demirel, Özgür Kartal, Mustafa
Güleç, Osman Şener, Ankara, Turkey
6. Evaluation of bronchiectasis in PID patients
İbrahim Cemal Maslak, Ayşen Bingöl, Tuba Turul Özgür, Olcay Yeğin, Akdeniz
Üniversitesi, Antalya, Turkey
7. A case of common variable immune deficieny associated with hemolytic anemia
Mehtap Haktanır Abul, Zekiye İlke Kılıç Topçu, Fazıl Orhan, Trabzon, Turkey
8. Selective immunoglobuline M deficiency associated with angioedema
Zekiye İlke Kılıç Topçu, Mehtap Haktanır Abul, Fazıl Orhan, Trabzon, Turkey
9. Autoimmune hepatitis and scleroderma in a patient with X‐linked
agammaglobulinaemia
Mustafa Yılmaz, Gülbin B Karakoç, Derya Ufuk Altıntaş, Aylin Kotil, Adana, Turkey
10. B cell lymphopenia and lymphadenitis in a newborn infant
Şükrü Nail Güner, Esra Hazar Sayar, Mukaddes Ağırtıcı, İsmail Reisli, Konya, Turkey
11. 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
12. 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
13. Selective IgA deficiency: analysis of 100 Latvian patients
Tatjana Prokofjeva, Riga, Latvia
14. PID - Common manifestations of rare diseases
Marina Karakina, Irina Tuzankina, Ekaterinburg, Russia
15. A case with absence of B lymphocytes
Hülya Özdemir, Hasibe Artaç, Onur Ural, Hakan Karabağlı, A. Zafer Çalışkaner,
Konya, Turkey
16. Bronchiectasis and immundeficiency
Mustafa Güleç, Fevzi Demirel, Uğur Muşabak, Özgür Kartal, Sait Yeşillik, Abdullah
Baysan, Ergün Uçar, Osman Şener, Ankara, Turkey
17. SCIG replacement in 7 Hungarian patients: A single center observation
Vera Gulácsy, László Maródi, Debrecen, Hungary
18. 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
19. Evaluation of humoral deficiencies in children with bronchiectasis
İlknur Bostancı,Şennur Keleş, Serap Özmen, Nazlı Cörüt. Ankara, Turkey
20. Autoimmune diseases in patients with primary antibody deficiencies
Sirje Verbli, Tallinn, Estonia
T CELLS
Chairs:
Andrey Prodeus, Moscow
Alla Volokha, Kiev
Ludmilla Cerempei, Chisinau
1. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from
different ethnic groups
Huabao Jiao , Beáta Tóth , Melinda Erdős, Ingvor Fransson , Éva Rákóczi, István
Balogh, Zoltán Magyarics, Beáta Dérfalvi, Gabriella Csorba, Anna Szaflarszka, Irina
Kondratenko, Andre Megarbane, Carlo Akatcherian, Ghassan Dbaibo, Lennart
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2.
3.
4.
5.
Hammarström, Juha Kere, Gérard Lefranc, László Maródi, Beijing-Debrecen-SkövdeBudapest-Cracow-Moscow-Beirut- Stockholm- Montpellier, China-Hungary-SwedenPoland-Russia-Lebanon-France
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
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
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
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 Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy,
X-linked: 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 Children Using TRECs
Radwa Salah El Deen Youssif, Aisha Mahmoud El Marsafy, Nermeen Mouftah
Galal, Mei W. Baker, Cairo, Egypt
HSCT
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Chairs:
Tatjana Prokofjeva, Riga
Anna Szaflarszka, Cracow
Gergely Kriván, Budapest
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
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
SESSION 5
INNATE IMMUNE DEFECTS I.
Chairs:
09:00-09:20
09:20-09:40
09:40-10:00
10:00-10:15
10:15-10:30
Georgina Kuli-Lito, Tirana
Ricardo Sorensen, New Orleans, LA
Margit Serban, Timisoara, Romania
Immunodeficiency phenotype of MAGT1mutation
Michael J Lenardo, 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
Anti-IL-17A, but not anti-IL-17F and anti-IL-22 antibodies, may be
correlated with the severity of mucocutaneous candidiasis in APECED
patients
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Adrien Sarkadi, Debreceni, Hungary
10:30-10:40
10:40-10:50
10:50-11:00
Different severity of phenotypes in patients with STAT1 gain-of-function
mutations
Alla Volokha, Kiev, Ukraine
Hyperimmunoglobulinemia D syndrome in two children with periodic fever
Georgina Kuli-Lito, Tirana, Albania
11:00-11:30 COFFEE
SESSION 6
INNATE IMMUNE DEFECTS II.
Chairs:
11:30-11:45
11:45-12:00
12:00-12:10
12:10-12:20
12:20-12:30
12:30-12:40
12:40-13:00
Ozden Sanal, Ankara, Turkey
Nima Rezaei, Tehran, Iran
Liudmyla Chernyshova, Kiev, Ukraine
STAT2 deficiency
Sophie Hambleton, Newcastle upon Tyne, UK
PID patients with neutropenia: differential diagnostic algorythms
Nima Rezaei, Tehran, Iran
GATA2 deficiency in children with hematological abnormalities
Svetlana Sharapova, Minsk, Belarus
Chronic mild neutropenia revealing MonoMac syndrome
Mihaela Bataneant, Timisoara, Romania
Lung and brain aspergillosis in a patient with AR CGD
Anastasia Bondarenko, Kiev, Ukraine
Autosomal recessive HIES
Ozden Sanal, Ankara, Turkey
Challenges of HSCT to treat patients with phagocytic cell defects
Reinhard Seger, Zurich, Switzerland
13:00-14:00 LUNCH
SESSION 7
MISCELLANEOUS
14:00-15:00
Chairs:
14:00-14:20
14:20-14:30
14:30-14:40
14:40-14:50
Nadejda Sabashova, St. Petersburg
Beáta Tóth, Debrecen
Anna Shcherbina, Moscow
Novel adhesion protein deficiencies
Amos Etzioni, Haifa, Izrael
Novel and recurrent WASP mutations in Eastern and Central European
patients with WAS
Vera Gulácsy, Debrecen, Hungary
Characterizations of CGD patients in Turkey
Yavuz Köker, Kayseri, Turkey
Dysregulation of JAK-STAT signaling in systemic lupus erythematosus
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14:50-15:00
Tadej Avcin, Ljubljana, Slovenia
Mitochondrial pathology in autoinflammatory disorders
Anna Sediva, Prague, Czech Republic
POSTERS SESSION III.
PID SYNDROMES
Chairs:
Irina Kondratenko, Moscow
Anastasia Bondarenko, Kiev
1. Histological findings in ALPS patients
Irina Kondratenko, Dmitry Rogozhin, Olga Paschenko, Andrey Bologov, Moscow, Russia
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. Lymphocyte subsets in patients with ataxia-telengiectasia
Halil Çeliksoy, Samsun, Erdem Topal, Malatya, Alişan Yıldıran, Samsun, Turkey
6. Unusual clinical presentation of ataxia-telengiectasia in two siblings
Alişan Yıldıran, Samsun, Türkiye, Stephan Borte, Leipzig, Germany
7. 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
8. Unique ocular findings in a patient with 22q11.2 deletion syndrome
Gokturk Bahar, Bozkurt Bozkurt, Reisli Ismail, Konya, Turkey
9. 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
10. 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
11. 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
12. WHIM syndrome without hypoglobulinaemia and without warts
Kristina Mironska, Skopje, Republic of Macedonia
13. 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
14. 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
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15. Long term follow-up in the patient with hyper IgE syndrom with support of
intravenous immunoglobulins
Kralickova Pavlina, Freiberger Tomas, Hradec Králové, Czech republic
16. Clinical spectrum and molecular diagnosis of Shwachman-Diamond syndrome in
three Croatian families
Ana Merkler, Jadranka Kelecic, Dorian Tjesic-Drinkovic,Ivo Baric, Jurica Vukovic,
Vladimir Sarnavka, Ernest Bilic, Lana Omerza, Mario Cuk, Danijela Petkovic-Ramadza,
Jadranka Sertic, Zagreb, Croatia
INNATE IMMUNITY
Chairs:
Beáta Soltész, Debrecen
Mihaela Bataneant, Timisoara
Alexander Pischalnikov, Chelyabinsk
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
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 diagnoses of leukocyte adeshion molecule deficiency type-1
Şükrü Nail Güner, Esra Hazar Sayar, Melike Emiroğlu, İsmail Reisli, Konya, Turkey
9. Eye infections as presenting manifestations of chronic granulomatous disease
Esra Hazar Sayar, Şükrü Nail Güner, Mine Kıraç, Melike Emiroğlu, İsmail Reisli,
Konya, Turkey
10. 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
11. Salmonella enteritidis infection associated with cutaneous leukocytoclastic vasculitis
in a patient with IL-12R β1 deficiency
Dilara Fatma Kocacık Uygun, Serkan Filiz, Antalya, Turkey
12. 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
13
13. C8 deficiency with or without recurrent meningitis in a Turkish family
Nesrin Gulez, İzmir, Turkey
14. Chronic Mucocutaneous Candidiasis, Autoimmune Thyroiditis and Cerebral
Mycotic Aneurism; STAT1 mutation
Ayça Kiykim, Elif Karakoc Aydiner, Ahmet Oguzhan Ozen, Safa Baris, Tulay Guran,
Holland SM, Isil Barlan, Istanbul, Turkey
15. The Phenotype – Genotype Relationship in Severe Congenital Neutropenia Patients
Safa Baris, Elif Karakoç-Aydiner, Ayca Kiykim, Havva Hasret Cagan, Kaan Boztug, Isil
B. Barlan, Istanbul, Turkey
16. The Evaluation of Our Patients with Chronic Granulomatous Disease
Safa Baris, Ahmet Oguzhan Ozen, Ayca Kiykim, Ezgi Gizem Yuce, Elif Karakoc –
Aydiner, Isil Barlan, Istanbul, Turkey
17. Pulmonary computed tomography scan findings in chronic granulomatous disease
S.Alireza Mahdaviani, P. Mehrian,S. Eslampanah, B, Bashardoost, Nima Rezaei, A.A.
Velayati, Tehran, Iran
SESSION 8
THE ANTALYA DECLARATION
16:00-16:30
Chairs:
László Maródi, J PROJECT
Ismail Reisli, J DAUGHTER ANTALIA PROJECT
Amos Etzioni, ESID
Jose Drabwell, IPOPI
16:00-16:05
THE ANTALYA DECLARATION FOR PID PATIENTS
Reader: Melinda Erdős, Debrecen, Hungary
16:05-16:10
Government representative of Hungary (TBA)
16:10-16:15
Sema Özbaş, Head, Department of Child and Adolescent Health, Government of
Turkey
16:15-16:20
Government representative of Germany (TBA)
16:20-16:25
Signature of the Declaration
16:25-16:30
Closing the Meeting
17:00-19:00
Sport and relaxation program
19:30
Cultural program
14
15 March, 2014
IPOPI Meeting (suggest to specify this heading)
09:00-13:00
Chairs:
09:00-
INGID Meeting
09:00-??
Chairs:
09:00-
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15 March, 2014