The registry of
Auto-Inflammatory Disease mutations
Fifth International Congress on FMF and Systemic Autoinflammatory Diseases
2008, Rome, ITALY


APRIL 4, 2008

Time   Auditorium Bachelet
6.00 p.m.   Opening Ceremony
6.15 p.m.   J. Van der Meer (Nijmegen):
Fever of unknown origin in post-genomic era
6.45 p.m.   D. Kastner (Bethesda):
The expanding autoinflammatory galaxy
7.15 p.m.   Welcome Cocktail and Concert

APRIL 5, 2008

Pathways of the Innate Immunity
    1st Session
8.30 a.m.   D. Golenbock (Worcester):
Toll-like receptors (TLRs)
8.55 a.m.   M.E. Bianchi (Milan):
Damps, PAMPs and alarmins
9.20 a.m.   F. Martinon (Boston):
The inflammasome
9.45 a.m.   A. Rubartelli (Genoa):
Mechanism of IL-1 secretion
10.10 a.m.   C. Dinarello (Denver):
Caspase-activated cytokines
10.35-11.05 a.m.   Discussion
11.05-11.30 a.m.   Coffee break
    2nd Session
11.30 a.m.   R. Flavell (New Haven):
Innate immunity driving adaptive immunity
11.55 a.m.   M. McDermott (Leeds):
Inflammasome and Autoimmunity diseases
12.20 p.m.   R. Slim (Montreal):
NALP7 and hydatidiform moles
12.45-1.00 p.m.   Discussion
1.00 p.m.-3 p.m.   Lunch and poster viewing
NALP related diseases
    1st session
3.00 p.m.   H. Hoffman (San Diego):
3.20 p.m.   R. Goldbach-Mansky (Bethesda):
CINCA/NOMID clinical and therapeutic studies
    Oral Communication
3.40 p.m.   I. Jeru (Paris):
Mutations in NALP12 cause periodic fever syndromes
3.50 p.m.-4.00 p.m.   Discussion
    2nd session
4.00 p.m.   Summing-up of Poster session
    Oral Communications
4.15 p.m.   J.E. Balow Jr (Bethesda):
Microarray-based gene expression studies of systemic inflammation in patients with cryopyrin-associated periodic syndromes (CAPS)
4.25 p.m.   A. Piccini (Genoa):
ATP released following activation of various pathogen-sensing receptors autocrinally induces IL-1beta and IL-18 secretion by monocytes
4.35 p.m.   S. D. Brydges (Bethesda):
Initial Characterization of a Mouse Model of Cryopyrinopathy
4.45 p.m.   J. Anderson (San Diego):
Characterization of the human CIAS1 promoter
4.55 p.m. - 5.30 p.m.   Coffee break
5.30 p.m.-6.30 p.m.   The Thief Market (Interactive clinical cases) E. Ben-Chetrit (Jerusalem)

APRIL 6, 2008

From MEFV to Familial Mediterranean Fever
    1st session
8.15 a.m.   J. Chae (Bethesda):
Pyrin knock down and know out mice
8.35 a.m.   I. Touitou (Montpellier):
Interpretation of genetic testing and quality control for hereditary fevers
8.55 a.m.   S. Ozen (Ankara):
What about the heterozygotes?
9.15-9.30 a.m.   Discussion
9.30-10.00 a.m.   Coffee break
    2nd session
10.00 a.m.   R. Manna (Rome):
Clinical features of FMF and diagnosis
10.20 a.m.   A. Livneh (Tel Hashomer):
Diseases management
10.40 a.m.   H. Ozdogan (Istanbul):
Therapeutic advances
11.00-11.15 a.m.   Discussion
    Oral communications
11.15 a.m.   M. Booty (Bethesda):
Novel insights into the inheritance and diagnosis of familial Mediterranean fever (FMF)
11.25 a.m.   S. Stojanov (Bethesda):
Altered Development and Function of CD11c+ Cells in Pyrin-Null Mice
11.35 a.m.   T. Kallinich (Berlin):
S-100A12 as a sensitive marker for the detection of inflammation in children and adolescents with Familial Mediterranean Fever
11.45 a.m.   N. Bradman (London):
Incidence of MEFV exon 10 and exon 2 polymorphisms in multiple Asian, European and African countries and a novel test for geographically restricted positive selection pressure
11.55 a.m.   G. Wood (Bethesda):
RNA interference of MEFV in THP.1 cells reveals a role for endogenous pyrin in Toll-like receptor signaling (TLR) that is mediated by the transcription factor IRF2
12.05 p.m.   A. Gul (Bethesda):
The MEFV Gene 3'-UTR Alu Repeat Polymorphisms in Patients with Familial Mediterranean Fever
12.15-2.00 p.m.   Lunch and poster viewing
    3rd Session
2.00 p.m.   Summing-up of Poster session
    Oral communications
2.15 p.m.   M. La Regina (Rome):
Trends in colchicine treatment in familial mediterranean fever (FMF)
2.25 p.m.   E. Pras (Tel Hashomer):
Clinical Disease among FMF Heterozygotes
2.35 p.m.   N. Aktay Ayaz (Ankara):
Differences In The Severity Of The Phenotype Of Children and Adolescents With Familial Mediterranean Fever Residing In Turkey and Germany
2.45 p.m.   E. Verrecchia (Rome):
Role of small intestinal bacterial overgrowth in colchicine non-responders
2.55 p.m.   N. Colburn (Bethesda):
Dissecting Inflammatory and Chemotactic Pathways in Familial Mediterrean Fever
From Mevalonate kinase deficency to Periodic Fever
3.05 p.m.   J. Frenkel (Utrecht):
The missing link
3.25 p.m.   J. Drenth (Njimegen):
Clinical aspects
3.45-3.55 p.m.   Discussion
3.55 p.m.   Summing-up of Poster session
    Oral communications
4.10 p.m.   J. Frenkel (Utrecht):
Impaired isoprenoid biosynthesis induces caspase-1 activation in a Rac1/PI3kinase/PKB dependent fashion: implications for the Hyper IgD syndrome.
4.20 p.m.   J. Ch. van der Hilst (Njimegen):
Follow-up, clinical features, and quality of life in 103 patients with HyperImmunoglubulin D syndrome
4.30 p.m.   S. Federici (Genoa):
Validation of a diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in children with periodic fever.
4.40 p.m.   F. Yalcinkaya (Ankara):
A new set of criteria for the diagnosis of familial mediterranean fever in childhood
4.50-5.20 p.m.   Coffee Break
5.45 p.m.   Departure by bus for visit to Musei Capitolini
8.15 p.m.   Social Dinner - Terrazza Caffarelli

APRIL 7, 2008

New insights for TRAPS
8.30 a.m.   A. Simon (Njimegen/Bethesda):
Pathogenic consequences of TNFR trafficking abnormalities
8.50 a.m.   I. Todd (Nottingham):
Mutant TNF receptor in transfection systems
9.10 a.m.   M. Gattorno (Genoa):
Lessons from TRAPS patients
9.30-9.45 a.m.   Discussion
9:45 a.m.   Summing-up of Poster session
    Oral communications
10:00 a.m.   J. G. Ryan (Bethesda):
Identification and analysis of gene-expression signatures in peripheral blood leukocytes of patients with TRAPS
10:10 a.m.   B. Nedjai (London):
Abnormal TNFR1 cell surface expression and NF-KappaB activation in TNFR1-associated periodic fever syndrome (TRAPS)
10.20-10.50 a.m.   Coffee Break
The expanding spectrum of autoinflammatory diseases
    1st Session
10:50 a.m.   D. Kastner (Bethesda):
PAPA Syndrome
11:10 a.m.   H. El-Shanti (Iowa):
Chronic Recurrent Multifocal Osteomyelitis
11:30 a.m.   A. Martini (Genoa):
Systemic-Onset Juvenile Idiopathic Arthritis
11:50 a.m.   M. Hofer (Lausanne):
12:10 p.m.   A. Brucato (Bergamo):
Recurrent Pericarditis
12.30-1.00 p.m.   Discussion
1.00-2.45p.m.   Lunch and poster viewing
    2nd Session
2.45 p.m.   A. Gul (Istanbul):
Behçet Syndrome
3.05 p.m.   I. Koné-Paut (Paris):
Behçet Syndrome in children
3.25 p.m.   A. Simon (Njimegen):
Schnitzler Syndrome
3.45 p.m.   C. Wouters (Leuven):
Blau Syndrome
4.05 p.m.   M. Chamaillard (Lille):
NOD2 in inflammatory bowel diseases and other granulomatous diseases
4.25-4.45 p.m.   Discussion
4.45-5.15 p.m.   Coffee Break
5.15 p.m.   Summing-up of Poster session
    Oral Communications
5.30 p.m.   A. Rösen-Wolff (Dresden):
Mutated, structurally altered caspase-1 with decreased enzymatic and increased RIP2 mediated inflammatory activity leads to a new type of periodic fever (ICE fever)
5.40 p.m.   P. Ferguson (Iowa City):
A Mutation in Exon 8 of the Cherubism Gene is Associated with a Novel Autoinflammatory Phenotype that Affects the Skin and the Bone
5.50 p.m.   N. Kanazawa (Wakayama):
Familial Japanese fever (Nakajo-Nishimura syndrome): a novel hereditary periodic fever with partial lipodystrophy and a search for LPIN gene mutations
6.00 p.m.   C. LI (Beijing):
Clinical phenotype and CARD15 gene mutation with Blau Syndrome in Chinese children and their parents
6.10 p.m.   M.FJ André (Clermont-Ferrand):
Longer form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients
6.20 p.m.   R. Priori (Rome):
Systemic and tissutal IL-18 expression in adult onset Still's disease
6.30 p.m.   M. Gattorno (Genoa):
The pattern of response to anti IL-1 treatment distinguish two subset of patients with systemic onset juvenile idiopathic arthritis (SoJIA)

APRIL 8, 2008

New Insights in Amyloidosis
    1st Session
8.30 a.m.   P. Hawkins (London):
Amyloidosis in autoinflammatory diseases
8.50 a.m.   G. Merlini (Pavia):
New therapy for Amyloidosis
9.10-9.20 a.m.   Discussion
9.20 a.m.   Summing-up of Poster session
9.30 a.m.   B. Balci-Peynircioglu (Ankara):
Expression of ASC in renal tissues of FMF patients with amyloidosis; postulating a role for ASC in AA type amyloid deposition
9.40 a.m.   G. Hatemi (Istanbul):
Tumor Necrosis Factor alpha Antagonists in the Treatment of Secondary Amyloidosis
9.50-10.20 a.m.   Coffee Break
Novel Treatments in autoinflammatory diseases
10.20 a.m.   O. Della Casa Alberighi (Genoa):
Drug development in rare diseases
    Oral Communications
10.40 a.m.   H. Hoffman (San Diego):
Rilonacept in Patients with Cryopyrin-Associated Periodic Syndromes (CAPS): The Durability of Response over 48 weeks
10.50 a.m.   K. JB Kuemmerle-Deschner (Tuebingen):
Long-lasting response to ACZ885 (a new human IgG1 anti-IL-1_ monoclonal antibody) in patients with Muckle-Wells Syndrome (MWS)
11.00 a.m.   H. Lachmann (London):
Treatment of cryopyrin associated periodic fever syndrome with a fully human anti-IL-1beta monoclonal antibody (ACZ885): results from a subcutaneous administration study.
11.10 a.m.   R. Torres (Tarrytown):
mIL-1 Trap Reduces Pain and Inflammation in Animal Models of Gout
11.20 a.m.   A. Radin (Tarrytown):
Placebo-controlled Pilot Study of Rilonacept (IL-1 Trap), A Long Acting IL-1 Inhibitor, In Refractory Chronic Active Gouty Arthritis
11.30 a.m.   M. D. Casas González (Madrid):
Safety and efficacy of Infliximab and Rituximab in patients with refractory Behçet disease
11.40 a.m.   P. Miettunen (Calgary):
Effective Treatment with IV Pamidronate in Chronic Recurrent Multifocal Osteomyelitis( CRMO)-Resolution of Pain, Normalization of Radiologic Abnormalities, and Improvement of Elevated Urine-N-Telopept
11.50-1.00 p.m.   Future projects and conclusions