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ESID 2014 Scientific programme
Wednesday, October 29, 2014
Educational Day Programme: Plenary Session 1: Diagnostic Approach in
PID
09:00 - 10:30
Congress Hall
Chair: Marta Rizzi (Germany)
Chair: Peter Olbrich (Spain)
09:00 Pitfalls in the PID Diagnostic Lab
Speaker: Kimberley Gilmore (United Kingdom)
09:30 Autoimmunity as a Presenting Symptom of PID
Speaker: Troy Torgerson (USA)
10:00 Genetics in a Clinical Context (Classical and High-Tech Approaches)
Speaker: Bodo Grimbacher (United Kingdom)
Break & Poster Viewing: Coffee Break and Educational Poster Viewing
10:30 - 11:00
Congress Hall
Educational Day Programme: Posters: Educational Poster Walk 1-3
11:00 - 12:30
Poster Area
Break & Poster Viewing: Lunch Break and Summer School Reunion
12:30 - 13:30
Congress Hall
Educational Day Programme: Plenary Session 2: Therapeutic Approach to
PID
13:30 - 15:00
Congress Hall
Chair: Ales Janda (Czech Republic)
Chair: Margje Haverkamp (Netherlands)
13:30 New Developments in Old Therapies?
Speaker: Esther De Vries (Netherlands)
14:00 Stem Cell Transplantation
Speaker: Andrew Gennery (United Kingdom)
14:30 Gene Therapy
Speaker: Marina Cavazzana (France)
Break & Poster Viewing: Coffee Break, Educational Poster Viewing
15:00 - 15:30
Congress Hall
Educational Day Programme: Junior Activities
15:30 - 16:00
Chair: Marta Rizzi (Germany)
Congress Hall
Social Event: ESID, IPOPI & INGID Opening Ceremony
16:30 - 17:10
Congress Hall
16:30 Words of Welcome from Meeting President
Speaker: Anna Sediva (Czech Republic)
16:35 Words of Welcome from ESID President
Speaker: Amos Etzioni (Israel)
16:40 Words of Welcome from INGID President
Speaker: Peter Vickers (United Kingdom)
16:45 Words of Welcome from IPOPI President
Speaker: Jose Drabwell (United Kingdom)
16:50 Prague and the Czech Republic
Speaker: Anna Sediva (Czech Republic)
17:00 ESID Honorary Life Time Achievement Award- Presented to Dr. Helen
Chapel
Plenary Session: Opening Keynote Lecture
17:10 - 18:00
Congress Hall
17:10 Gregor Johann Mendel- a man ahead of his time
17:30 How far we have come since Gregor Johann Mendel
Speaker: Jean-Laurent Casanova (France)
Social Event: ESID, IPOPI & INGID Networking Reception
18:00 - 20:00
18:00 Concert: Praga Camerata
Congress Hall
Thursday, October 30, 2014
Parallel Workshop: Parallel Workshop I: Clinical
08:00 - 08:45
08:00
08:10
08:15
08:25
08:30
Congress Hall
Chair: Despina Moshous (France)
Chair: Klaus Warnatz (Germany)
EUROPE IMMUNOGLOBULIN MAP
Speaker: Anna Sediva (Czech Republic)
Discussion
THE PCID STUDY: UPDATE AND BASELINE FEATURES OF THE
FIRST FIFTY PATIENTS
Speaker: Carsten Speckmann (Germany)
Discussion - The challenge of transplant indication in CID
Plenary discussion: clinical surveys within the Clinical Working Party
Parallel Workshop: Parallel Workshop II: Database/ Registry
08:00 - 08:45
08:00
08:10
08:20
08:30
Panorama Hall
Chair: Stephan Ehl (Germany)
Chair: N. Malhaoui (France)
THE ESID ONLINE REGISTRY: A MAJOR LEAP FORWARD
Speaker: Benjamin Gathmann (Germany)
ANALYSIS OF IMMUNOGLOBULIN TREATMENT IN THE ESID
PATIENT REGISTRY. DO EUROPEAN CLINICIANS DOSE SCIG
DIFFERENTLY FROM IVIG?
Speaker: Benjamin Gathmann (Germany)
PULMONARY MANIFESTATIONS IN ADULT PATIENTS WITH
CHRONIC GRANULOMATOUS DISEASE
Speaker: Helene Salvator (France)
INCIDENCE AND PREVALENCE OF CONGENITAL NEUTROPENIA IN
FRANCE.
Speaker: Jean Donadieu (France)
Parallel Workshop: Parallel Workshop III: Technologies-Flowcytometry
08:00 - 08:45
Meeting Hall IV
Chair: Tomas Kalina (Czech Republic)
Chair: Jacques Van Dongen (Netherlands)
08:00 Introduction
Invited Speaker: Jacques Van Dongen (Netherlands)
08:15 Introduction
Invited Speaker: Tomas Kalina (Czech Republic)
08:30 EUROFLOW-PID STRATEGY FOR IDENTIFICATION OF
CIRCULATING PERIPHERAL BLOOD B-LYMPHOCYTE SUBSETS IN
PRIMARY IMMUNODEFICIENCIES.
Speaker: Martin Perez-Andres (Spain)
Parallel Workshop: Parallel Workshop VI: Complement Disorders & Innate
08:00 - 08:45
08:00
08:12
08:22
08:32
Meeting Hall V
Chair: Tomas Freiberger (Czech Republic)
Chair: Michael Kirschfink (Germany)
BRIEF OVERVIEW ON COMPLEMENT DEFICIENCIES
Invited Speaker: Michael Kirschfink (Germany)
FUNCTIONAL ANALYSES OF TOTAL COMPLEMENT ACTIVITY IN
AN ELISA-BASED KIT WHICH REPLACES HAEMOLYTIC ASSAYS: A
DECADE OF EXPERIENCE AND FUTURE PERSPECTIVES
Speaker: Reinhard Würzner- (Austria)
CHARACTERIZATION OF NEUTROPHIL DEATH AND
DYSFUNCTION IN VPS45 MUTATED CELLS FROM PATIENTS WITH
SEVERE CONGENITAL NEUTROPENIA 5 (SCN5)
Speaker: Raz Somech (Israel)
Human SHP-1 mutation causes an autoinflammatory and immunodeficiency
phenotype
Speaker: Venetia Bigley ()
Parallel Workshop: Parallel Workshop V: Newborn Screening for PIDs
08:00 - 08:45
Terrace 1
Chair: Lennart Hammarström (Sweden)
Chair: Stephan Borte (Germany)
08:00 Newborn screening for primary immunodeficiency diseases: Past, Present
and Future
Speaker: Lennart Hammarström (Sweden)
08:15 SYSTEMATIC NEONATAL SCREENING FOR SEVERE COMBINED
IMMUNODEFICIENCY AND SEVERE T-CELL LYMPHOPENIA:
ANALYSIS OF COST-EFFECTIVENESS BASED ON FRENCH REAL
FIELD DATA
Speaker: Nizar Mahlaoui (France)
08:30 Multiplexing possibilities: newborn screening for SCID, XLA, FHL and …?
Speaker: Stephan Borte (Germany)
Parallel Workshop: Parallel Workshop IV: Emerging PID 1
08:00 - 08:45
Chair: Ewa Bernatowska (Poland)
Chair: Qiang Pan-Hammarström (Sweden)
08:00 HYPOMORPHIC HOMOZYGOUS MUTATIONS IN
PHOSPHOGLUCOMUTASE3 IMPAIR IMMUNITY AND INCREASE
SERUM IGE LEVELS
Speaker: Linlin Yang (Germany)
08:15 AUTO-INFLAMMATION, IMMUNODEFICIENCY AND
LYMPHANGIECTASIA IN PATIENT MISSING LUBAC COMPONENT
Speaker: Bertrand Boisson (USA)
08:30 PGM3 MUTATIONS CAUSE A CONGENITAL DISORDER OF
GLYCOSYLATION WITH SEVERE COMBINED
IMMUNODEFICIENCY, CONGENITAL NEUTROPENIA AND
Terrace 2
SKELETAL DYSPLASIA
Speaker: Asbjørg Stray-Pedersen (Norway)
Plenary Session: Plenary Session I
09:00 - 10:30
Congress Hall
Chair: Amos Etzioni (Israel)
Chair: Andrew Cant (United Kingdom)
09:00 Ubiquitination: The NF-Kb Pathway as an Example
Speaker: Aaron Ciechanover (Israel)
09:30 Understanding the Immune System Through MicroRNA
Speaker: Mark Ansel (USA)
10:00 Immunological Synapse
Speaker: Gillian Griffiths (United Kingdom)
Break & Poster Viewing: Coffee Break, Exhibition & Poster Viewing
10:30 - 11:00
Parallel Session: Parallel Session I: Defense Against Bacteria
11:00 - 12:30
Chair: Capucine Picard (France)
Chair: Malgorzata Pac (Poland)
11:00 Susceptibility to Meningococcal Infection
Invited Speaker: Michael Levin (USA)
11:30 Susceptibility to Mycobacterial Infections
Invited Speaker: S. Boisson-Dupuis (USA)
Congress Hall
A NEW GENETIC DISORDER PREDISPOSE MENDELIAN
SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES
Speaker: Xiao-Fei Kong (USA)
STAPHYLOCOCCAL DISEASE IN HUMANS WITH INHERITED
TIRAP/MAL DEFICIENCY AND IMPAIRED ANTIBODY RESPONSE TO
THE TLR2 AGONIST LTA
Speaker: Laura Israel (France)
Parallel Session: Parallel Session II: Defense against Viruses
11:00 - 12:30
Panorama Hall
Chair: Asghar Aghamohammadi, Iran
Chair: Mirjam van der Burg, Netherlands
11:00 TLR Signalling Defects Associated with Viral Infections
Invited Speaker: S.Y. Zhang (France)
11:30 Cutaneous Viruses in Primary Immunodeficiencies
Invited Speaker: Steve Holland (USA)
ABOLISHED TYPE I IFN IMMUNITY UNDERLIES SEVERE
INFLUENZA DISEASE IN HUMANS
Speaker: Michael Ciancanelli (USA)
IDENTIFICATION OF IRF3 MUTATIONS IN ADULT PATIENTS WITH
HERPES ENCEPHALITIS
Speaker: Trine Mogensen (Denmark)
Parallel Session: Parallel Session III: Defense Against Fungi
11:00 - 12:30
Chair: Anne Puel (France)
Chair: TBA TBA ()
11:00 Genetic Defects Leading to Fungal Infections
Invited Speaker: Laszlo Marodi (Hungary)
11:30 Antifungal Defense in CGD (NETs)
Invited Speaker: Janine Reichenbach (Switzerland)
Meeting Hall IV
TWO INDEPENDENT KILLING MECHANISMS OF CANDIDA
ALBICANS BY HUMAN NEUTROPHILS: EVIDENCE FROM INNATE
IMMUNITY DEFECTS
Speaker: Roel Gazendam (Netherlands)
INHERITED IL-17RC DEFICIENCY IN PATIENTS WITH CHRONIC
MUCOCUTANEOUS CANDIDIASIS
Speaker: Yun Ling (France)
Break & Poster Viewing: Lunch Break, Exhibition & Satellite Symposia
12:30 - 14:30
Congress Hall
Parallel Session: Parallel Session IV: Mucosal Immunity
14:30 - 16:00
Congress Hall
Chair: Isabella Quinti (Italy)
Chair: Thomas Fleisher, MD (USA)
14:30 Gut Reactions: Immune Pathways in the Intestine in Health and Disease
Invited Speaker: Andrea Cerutti (Spain)
15:00 Interaction Between Microbiota and Immune System
Invited Speaker: Hom Uhlig (United Kingdom)
MUCOSAL IMMUNE DYSREGULATION IN OMENN SYNDROME
Speaker: Barbara Cassani (Italy)
IL21 DEFICIENCY RESULTS IN EARLY-ONSET INFLAMMATORY
BOWEL DISEASE AND COMMON VARIABLE IMMUNODEFICIENCY–
LIKE DISEASE
Speaker: Elisabeth Salzer (Austria)
Parallel Session: Parallel Session V: Autoimmunity in PID & inflammation
14:30 - 16:00
Panorama Hall
Chair: Eleanora Gambineri (Italy)
Chair: Anna Scherbina (Russia)
14:30 Autoimmunity in Wiskott Aldrich Syndrome
Invited Speaker: Anna Villa (Italy)
15:00 IPEX & Beyond
Invited Speaker: Troy Torgerson (USA)
CTLA-4 DEFICIENCY – A NOVEL AUTOSOMAL-DOMINANT IMMUNE
DYSREGULATION SYNDROME
Speaker: Desirée Schubert (Germany)
HUMAN CTLA4 HAPLOINSUFFICIENCY CAUSES SEVERE IMMUNE
DYSREGULATION
Speaker: Gulbu Uzel (USA)
Parallel Session: Parallel Session VI: The Border Between Innate and Adaptive
Immunity
14:30 - 16:00
Meeting Hall IV
Chair: S. Tangye (Australia)
Chair: Christoph H. Klein (Germany)
14:30 New Lymhocytes Populations – Bridge between Innate and Adaptive
Immunity
Invited Speaker: James Di Santo (France)
15:00 New Lymphoproliferative Disorders
Invited Speaker: Sylvain Latour (France)
A NOVEL PRIMARY IMMUNODEFICIENCY DISORDER WITH
MULTIPLE DEFECTS OF THE LYMPHOID SYSTEM CAUSED BY
PERTURBED NF-KAPPA B SIGNALING
Speaker: Katharina Willmann (Austria)
IL-17RA AND ADA2 DEFICIENCY IN SIBLINGS WITH RECURRENT
INFECTIONS AND CHRONIC INFLAMMATION
Speaker: Marie Therese Luder (Switzerland)
Break & Poster Viewing: Coffee Break, Exhibition & Poster Viewing
16:00 - 16:30
Plenary Session: Plenary Session II
16:30 - 18:00
Congress Hall
Chair: Stephan Ehl (Germany)
Chair: Yanick Crow (United Kingdom)
16:30 Overview of Autoinflammatory Disorders
Speaker: Helen Lachmann (United Kingdom)
17:00 Novel genes in autoinflammation with immunodeficiency
Speaker: Ivona Aksentijevich (USA)
17:30 Eurofever Project, Overlaps with Primary Immunodeficiencies
Speaker: Marco Gattorno (Italy)
Break & Poster Viewing: Drinks and Posters
18:00 - 19:00
Congress Hall
Friday, October 31, 2014
Parallel Workshop: Parallel Workshop VII: Emerging PID 2
08:00 - 08:45
Congress Hall
Chair: Laszlo Marodi (Hungary)
Chair: R. Sorenson (USA)
08:00 A HUMAN IMMUNODEFICIENCY CAUSED BY MUTATIONS IN
THE PHOSPHOINOSITIDE 3-KINASE (PI3K) REGULATORY
SUBUNIT P85 ALPHA GENE PIK3R1 AND THE SUBSEQUENT
HYPERACTIVATION OF PI3K SIGNALING.
Speaker: Sven Kracker (France)
08:15 THE CLINICAL MANIFESTATIONS, MANAGEMENT AND
OUTCOMES OF ACTIVATED PI3K-DELTA SYNDROME (APDS)
IN UK AND IRELAND COHORT.
Speaker: Tanya Coulter (Ireland)
08:30 A SHORT-TERM TREATMENT SUMMARY USING M-TOR
INHIBITORS IN PATIENTS WITH GERMLINE PIK3CD
MUTATIONS: PROSPECTS FOR FUTURE
Speaker: S. Tangye (Australia)
Parallel Workshop: Parallel Workshop VIII: Hypo and Agammaglobulinemia, Clinical Issues
08:00 - 08:45
Chair: Jiri Litzman (Czech Republic)
Chair: Helen Chapel (United Kingdom)
08:00 SIFD SYNDROME – A NOVEL ANTIBODY DEFICIENCY
ASSOCIATED WITH PERIODIC FEVERS AND AUTOINFLAMMATION
Speaker: Stephen Jolles (United Kingdom)
Panorama Hall
08:10 INCREASED PREVALENCE OF GASTROINTESTINAL VIRUSES
AND DIMINISHED SECRETORY IMMUNOGLOBULIN A LEVELS
IN ANTIBODY DEFICIENCIES
Speaker: Willemijn Janssen (Netherlands)
08:20 COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE IN 6
DUTCH PATIENTS WITH PARTIAL DELETION OF THE LONG
ARM OF CHROMOSOME 11 (JACOBSEN SYNDROME): PART OF
THE SYNDROME?
Speaker: Virgil Dalm (Netherlands)
08:30 PRESENTATION OF A CVID-PHENOTYPE PATIENT WITH
CD40L DEFICIENCY IDENTIFIED BY WHOLE
TRANSCRIPTOME SEQUENCING
Speaker: Stephan Borte (Germany)
Parallel Workshop: Parallel Workshop IX: Autoimmunity,
Interferonopathies
08:00 - 08:45
08:00
08:12
08:24
08:34
Meeting Hall IV
Chair: Yanick Crow (United Kingdom)
Chair: Tadej Avcin (Slovenia)
Association of PID with autoimmunity and autoinflammation: the
clinical challenge
Invited Speaker: Tadej Avcin (Slovenia)
A brief introduction to the human type I interferonopathies
Invited Speaker: Yanick Crow (United Kingdom)
IL12 SIGNALING DEFICIENCY IS A NOVEL CAUSE OF THE
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Speaker: Ute Fischer (Germany)
ABNORMALLY DIFFERENTIATED CD4+ OR CD8+ T-CELLS
WITH PHENOTYPIC AND GENETIC FEATURES OF DOUBLE
NEGATIVE T-CELLS IN HUMAN FAS DEFICIENCY
Speaker: Anne Rensing-Ehl (Germany)
Parallel Workshop: Parallel Workshop XII: IEWP
08:00 - 08:45
Meeting Hall V
Chair: Andrew Gennery (United Kingdom)
Chair: Petr Sedlacek (Czech Republic)
08:00 SINGLE CENTRE RETROSPECTIVE ANALYSIS OF 33 PATIENTS
WITH X-SCID TRANSPLANTED WITH PARENTAL HLAHAPLOIDENTICAL GRAFTS
Speaker: Manfred Hoenig (Germany)
08:15 TCR ALPHA/BETA DEPLETION FOR STEM CELL
TRANSPLANTATION IN PRIMARY IMMUNODEFICIENCY
DISEASES: RESULTS AND CONTROVERSY
Speaker: Dmitry Balashov (Russia)
08:30 IMMUNOLOGICAL AND METABOLIC CORRECTION AFTER
LENTIVIRAL VECTOR MEDIATED HAEMATOPOIETIC STEM
CELL GENE THERAPY FOR ADA DEFICIENCY
Speaker: Bobby Gaspar (United Kingdom)
Parallel Workshop: Parallel Workshop XI: Technologies * Next Generation
Sequencing
08:00 - 08:45
08:00
08:01
08:06
08:11
08:16
08:31
Chair: Capucine Picard (France)
Chair: Kaan Boztug (Austria)
Introduction
Invited Speaker: Capucine Picard (France)
Targeting sequencing in PID diagnostic
Invited Speaker: Kimberly Gilmour (United Kingdom)
Targeting sequencing in PID diagnostic
Speaker: Marielle Van Gijn ()
Discussion
Different tools, Quality controls ethical problems and perspectives
Invited Speaker: Klaus Schwartz (Germany)
Bioinformatics tools, perspectives
Invited Speaker: Kaan Boztug (Austria)
Terrace 1
Parallel Workshop: Parallel Workshop X: CVID 2
08:00 - 08:45
Terrace 2
Chair: Matthew Collin (United Kingdom)
Chair: Ester Mejstrikova (Czech Republic)
08:00 LONG-TERM SAFETY OF INFLIXIMAB IN CVID-RELATED
INFLAMMATORY BOWEL DISEASE
Speaker: Nisha Verma (United Kingdom)
08:15 EXPLORING T-CELL DISTURBANCES IN COMMON VARIABLE
IMMUNODEFICIENCY DISORDERS
Speaker: Ana Serra-Caetano (Portugal)
08:30 NEXT GENERATION SEQUENCING DISCOVERS NOVEL GENES
CAUSATIVE FOR CVID AND LYMPHOMA IN CVID
Speaker: Patricia Lugar (USA)
Plenary Session: Plenary Session III: PID without Borders I
09:00 - 10:30
Congress Hall
Chair: Allessandro Aiuti (Italy)
Chair: Jan Stary (Czech Republic)
09:00 T-Cell Biology
Speaker: Alain Fischer (France)
09:30 Novel Combined Deficiencies
Speaker: Luigi Notarangelo (USA)
10:00 NK Cells / Biology / Immunodeficiencies
Speaker: Eric Vivier (France)
Break & Poster Viewing: Coffee Break, Exhibition & Poster Viewing
10:30 - 11:00
Congress Hall
Parallel Session: Parallel Session VII: T-B Cooperation
11:00 - 12:30
Congress Hall
Chair: Raif Geha (USA)
Chair: Klaus Warnatz (Germany)
11:00 Antiviral T and B Cell Immunity
Invited Speaker: Qiang Pan-Hammarström, Sweden
11:30 Lessons from PIDs: requirements for T and B Cell Immunity
Invited Speaker: S. Tangye (Australia)
AUTOSOMAL-RECESSIVE AGAMMAGLOBULINEMIA DUE TO
HOMOZYGOUS MUTATIONS IN ARTEMIS: DO WE NEED A
MODIFIER?
Speaker: Timo Volk (Germany)
A NOVEL IMMUNODEFICIENCY CAUSED BY A MUTATION IN
TRANSFERRIN RECEPTOR 1 THAT DISRUPTS IRON
TRANSPORT
Speaker: Haifa Jabara (USA)
Parallel Session: Parallel Session VIII: CVID
11:00 - 12:30
Panorama Hall
Chair: Mirjam Van der Burg (Netherlands)
Chair: Marta Rizzi (Germany)
11:00 CVID New Genes
Invited Speaker: Bodo Grimbacher (Germany)
12:00 CVID, Diagnosis and Treatment
Invited Speaker: Charlotte Cunningham-Rudles (USA)
CLEC16A ASSOCIATES WITH HUMAN COMMON VARIABLE
IMMUNODEFICIENCY AND INFLUENCES MURINE B CELL
SURVIVAL AND FUNCTION
Speaker: Silje Jørgensen (Norway)
BCR-MEDIATED CANONICAL NF-KB SIGNALING IS
DISTURBED IN A SUBGROUP OF CVID PATIENTS
Speaker: Baerbel Keller (Germany)
Parallel Session: Parallel Session IX: T Cells
11:00 - 12:30
Meeting Hall IV
Chair: Despina Moshous (France)
Chair: Oscar De la Calle (Spain)
11:00 T Cell Activation Defects and Other Novel Combined PID
Invited Speaker: Stephan Ehl (Germany)
11:30 Novel Defects in the NFkappaB Pathway
Invited Speaker: Klaus Schwartz (Germany)
THE EXTENDED CLINICAL PHENOTYPE OF 58 PATIENTS
WITH DOCK8 DEFICIENCY
Speaker: Elena Sigmund (Germany)
AP3D DEFICIENCY DEFINES A NEW TYPE OF HERMANSKYPUDLAK SYNDROME
Speaker: Stephan Ehl (Germany)
Parallel Session: Parallel Session XIII: Technologies * Next Generation
Sequencing
11:00 - 12:30
Meeting Hall V
Chair: Capucine Picard (France)
Chair: Kaan Boztug (Austria)
WHOLE EXOME SEQUENCING FOR PRIMARY
IMMUNODEFICIENCIES – EXPERIENCE FROM THE ASIAN
PRIMARY IMMUNODEFICIENCY (APID) NETWORK
Speaker: Pamela Lee (Hong Kong, China)
HIGH DIAGNOSTIC YIELD BY EXOME SEQUENCING OF 275
PRIMARY IMMUNODEFICENCY PATIENTS
Speaker: Asbjørg Stray-Pedersen (Norway)
A WHOLE TRANSCRIPTOME SEQUENCING PIPELINE FOR
THE IDENTIFICATION AND CHARACTERISATION OF
DISEASE-CAUSING GENES IN PRIMARY IMMUNODEFICIENCY
DISEASES
Speaker: Volker Menzel (Germany)
COHORT-WIDE IDENTIFICATION OF MORBID ALLELES WITH
THE HUMAN GENE CONNECTOME
Speaker: Yuval Itan (USA)
Break & Poster Viewing: Lunch Break, Exhibition & Satellite Symposia
12:30 - 14:30
Parallel Session: Parallel Session X: Hematopoietic Stem Cells
Transplantation and Gene Therapy
14:30 - 16:00
Congress Hall
Chair: Bobby Gaspar (United Kingdom)
Chair: Reinhard Seger (Switzerland)
14:30 Hematopoietic Stem Cells Transplantation
Invited Speaker: Andrew Gennery (United Kingdom)
15:15 Gene Therapy
Invited Speaker: Marina Cavazzana (France)
Clonal tracking after gene therapy reveals composition, fate and
activity of hematopoietic stem cells and T-cells
Speaker: Alessandro Aiuti (Italy)
TREATMENT OF POST-HSCT IMMUNE DEFICIENCY BY
INFUSION OF EX VIVO GENERATED T-CELL PRECURSORS
Speaker: Isabelle André-Schmutz (France)
Parallel Session: Parallel Session XI: Neutropenia
14:30 - 16:00
Panorama Hall
Chair: Taco Kuijpers (Netherlands)
Chair: Kaan Boztug (Austria)
14:30 PID Revealed by Neutropenia
Invited Speaker: Christoph H. Klein (Germany)
15:00 Complications and Treatment of Congenital Neutropenia
Invited Speaker: Jean Donadieu (France)
HUMAN JAGN1 DEFICIENCY CAUSES DISTURBED MYELOID
CELL HOMEOSTASIS AND SEVERE CONGENITAL
NEUTROPENIA
Speaker: Kaan Boztug (Austria)
THE EXTENDED SPECTRUM OF LEUKOCYTE ADHESION
DEFICIENCY-1: SINGLE INSTITUTION LONG TERM FOLLOWUP OF 12 CASES
Speaker: Kelly Walkovich (USA)
Parallel Session: Parallel Session XII: Cutting Edge Treatment in
Immunodeficiencies
14:30 - 16:00
Meeting Hall IV
Chair: Esther De Vries (Netherlands)
Chair: Ales Janda (Czech Republic)
14:30 Monoclonal Antibodies in PID
Invited Speaker: Mario Abinun (United Kingdom)
15:00 Cytokine and Anti -Cytokine Treatment in PID
Invited Speaker: Steve Holland (USA)
PERSONALIZED THERAPY FOR X-LINKED
AGAMMAGLOBULINEMIA (XLA) BY OLIGONUCLEOTIDEINDUCED SPLICE-CORRECTION
Speaker: C. I. Edvard Smith (Sweden)
LONG-TERM CONTINUOUS INTRA-ERYTHROCYTE INFUSION
OF DEXAMETHASONE REDUCES NEUROLOGICAL SYMPTOMS
IN ATAXIA TELANGIECTASIA PATIENTS
Speaker: Roberto Micheli (Italy)
Break & Poster Viewing: Coffee Break, Exhibition & Poster Viewing
16:00 - 16:30
Congress Hall
Plenary Session: Plenary Session IV: PID without Borders II
16:30 - 18:00
Chair: Anne Durandy (France)
Chair: Menno Van Zelm (Netherlands)
16:30 TLR
Speaker: Andrew G. Bowie (Ireland)
17:00 Early B-Cell Development and Pathology
Speaker: Marie E. Conley (USA)
17:30 Late B-Cell Development and Pathology
Speaker: Klaus Warnatz (Germany)
Congress Hall
Saturday, November 01, 2014
Parallel Workshop: Parallel Workshop XIII
Panorama Hall
ASSESSMENT OF NUTRITIONAL STATUS IN
AGAMMAGLOBILINEMIA: RESULTS OF A MULTICENTER
STUDY
Speaker: Rosy Dellepaine (Italy)
REDUCED DIVERSITY OF THE IMMUNE RECEPTOR
REPERTOIRE AS NEW PATHOPHYSIOLOGICAL MARKER FOR
CVID
Speaker: Hanna IJspeert (Netherlands)
CD46 LINKS COMPLEMENT AND METABOLIC
REPROGRAMMING IN HUMAN TH1 RESPONSES
Speaker: Sarah Dimeloe (Switzerland)
T cell depleted reduced intensity haematopoietic stem cell
transplantation for immune dysfunction due to GATA 2 mutation.
Speaker: Matthew Collin (United Kingdom)
MUCOSAL-ASSOCIATED INVARIANT T CELLS IN PRIMARY
AND SECONDARY IMMUNODEFICIENCY PATIENTS
Speaker: Yifang Gao (United Kingdom)
FUNCTIONAL DICHOTOMY OF HUMAN ISG15 –
MYCOBACTERIAL DISEASE AND INTERFERONOPATHY
Speaker: Dusan Bogunovic (USA)
HOMOZYGOUS MUCOSA-ASSOCIATED LYMPHOID TISSUE 1
(MALT1) MUTATION IN TWO SIBLINGS WITH
IMMUNODEFICIENCY AND CHRONIC ENTEROPATHY
Speaker: Gasper Markelj (Slovenia)
DISSECTING THE ROLE OF IGD IN NAIVE B-CELL
HOMEOSTASIS AND ANTIBODY RESPONSES IN INDIVIDUALS
WITH HETEROZYGOUS IGD DEFICIENCY
Speaker: Jana Nechvatalova (Czech Republic)
DEFECTS IN CD8 CYTOLYSIS IN IMMUNODEFICIENCIES WITH
IMPAIRED EBV CLEARANCE
Speaker: Pamela Schwartzberg (USA)
IDENTIFYING GENES INVOLVED IN COMMON VARIABLE
IMMUNE DEFICIENCY DISORDERS: AN INTEGRATED WHOLE
GENOME SEQUENCING AND RNA SEQUENCING APPROACH.
Speaker: Pauline Van Schouwenburg (United Kingdom)
Social Event: General Assembly
08:30 - 09:30
Panorama Hall
Break & Poster Viewing: Coffee Break
09:30 - 09:45
Parallel Workshop: Late Breaking Oral Presentations
09:45 - 12:00
09:45
09:56
10:07
10:18
Panorama Hall
Chair: Jean-Laurent Casanova (France)
Chair: Alain Fischer (France)
INHERITED BCL10 DEFICIENCY IN A CHILD WITH INNATE
AND ADAPTIVE DEFECTS
Speaker: Rebeca Perez deDiego (Spain)
FIRST HUMAN COMBINED IMMUNODEFICIENCY
ASSOCIATED WITH DYSFUNCTIONAL CD28 COSTIMULATION
IN T LYMPHOCYTES.
Speaker: Vivien Béziat (France)
IMMUNODEFICIENCY AND SEVERE SUSCEPTIBILITY TO
BACTERIA ASSOCIATED WITH A LOSS-OF-FUNCTION
HOMOZYGOUS MUTATION OF MKL1
Speaker: Siobhan Burns (United Kingdom)
EV5 DEFICIENCY: THE KEY TO UNDERSTAND MOLECULAR
PATHOGENESIS OF EPIDERMODYSPLASIA VERRUCIFORMIS?
Speaker: Sarah Jill De Jong (USA)
10:29 HAPLOINSUFFICIENCY OF THE NFKB1 SUBUNIT P50 CAUSES
CVID
Speaker: Natalie Frede (Germany)
10:40 MUTATIONS IN XRCC4 ASSOCIATED WITH MICROCEPHALY,
SEVERE DNA DOUBLE-STRAND BREAKAGE REPAIR DEFECT,
NORMAL VDJ RECOMBINATION, INCREASED
MICROHOMOLOGY DURING CLASS SWITCH
RECOMBINATION, BUT NO CLINICAL IMMUNODEFICIENCY
Speaker: Andrew Gennery (United Kingdom)
10:51 GRANULOCYTE-SPECIFIC INHERITED HUMAN NRAMP1
DEFICIENCY:IMPAIRED RESPIRATORY BURST AND
PYOGENIC INFECTIOUS DISEASES
Speaker: Bustamante Jacinta (France)
11:02 HOMOZYGOUS CCBE1 MUTATION IN TWO SIBLINGS WITH A
NOVEL PHENOTYPE: SEVERE INTESTINAL
LYMPHANGIECTASIA AND CHYLOUS ASCITES IN THE
ABSENCE OF CHOLESTASIS
Speaker: Carolyn Jackson (USA)
11:13 DUAL IMPAIRMENT OF IL-17 AND IFN-G IMMUNITY CAUSE
INFECTIONS BY CANDIDA AND MYCOBACTERIUM IN
HUMANS WITH RORC DEFICIENCY
Speaker: Janet Markle (USA)
11:24 INHERITED IL-12R?2 COMPLETE DEFICIENCY PREDISPOSES
TO BCG DISEASE AND TUBERCULOSIS
Speaker: Rubén Martínez Barricarte (USA)
11:35 EXCELLENT OUTCOME FOR ADULTS AND OLDER
ADOLSECENTS FOLLOWING REDUCED INTENSITY
ALLOGENEIC HAEMATOPOIETIC STEM CELL
TRANSPLANTATION FOR INHERITED PRIMARY IMMUNE
DEFICIENCIES (PID).
Speaker: Emma Morris (United Kingdom)
11:46 ASSOCIATION OF A STING GAIN OF FUNCTION MUTATION
WITH A FAMILIAL SYSTEMIC INFLAMMATORY AND
AUTOIMMUNE SYNDROME.
Speaker: Frédéric Rieux-Laucat (France)
Plenary Session: Plenary Session V: Presidential Lecture
12:00 - 13:00
Panorama Hall
Chair: Amos Etzioni (Israel)
Chair: Hans Ochs (USA)
12:00 New PIDs for old . . clinical insights, molecular understandings
Speaker: Andrew Cant (United Kingdom)
Social Event: Closing Ceremony & Awards (Poster, Travel & Fellowship)
13:00 - 13:30
Panorama Hall