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ESID Prague Spring Meeting 2008 – programme: Monday morning , May 19: optional programme - University Hospital Motol 10am-10.30am 10.30am-10.45am 10.45am-11.15am 11.15am-11.45am 12am-12.30pm Registration Opening welcome speech Presentation of sponsors Optional visit of departments - Institute of Immunology, laboratory settings, Department of Pediatrics, newly opened facilities, transplantation unit Transportation to Olympus, official venue site Monday afternoon, May 19: scientific programme - Olympus 12.30pm-1.30pm Registration, lunch in Olympus, official venue site 1.30pm-3pm Management of PIDs Andrew Cant (invited speaker): BMT in PIDs, cord blood transplants (40 min). Peter Čižnár: BMT in SCID patients in Slovakia (10 min). Renata Formánková: Stem Cell Transplantation for Chronic Granulomatous Disease in Czech Republic – First Experience (10 min). Svetlana Shchebet: Development of immunological and genetic diagnostic in patients with primary immunodeficiency in Belarus (15 min). Radana Zachová: Patiens with primary immunodeficiencies in Prague (5 min). Vilma Mulaosmanovic: The situation in PID in Bosnia and Herzegovina (5 min). Mariela Milla Pimentel: The situation in PID in Lima, Peru (5 min). 3.15pm-4.30pm T cells and severe immunodeficiences Graham Davies (invited speaker): Di George syndrome (45min). Olesya Shvets: Revealing Children with Di George syndrome (15min). Anna Šedivá: T-reg in patients with Di George syndrome (10min). Tuesday morning, May 20: 9am-10.30am B cells, other immunodeficiences Alison Jones (invited speaker): Immunoglobulin replacement therapy in PIDs (40min). Jiří Litzman: Mannose-binding lectin (MBL) variants in CVID (15min). Christian Forster: Calcium signaling in B and T lymphocytes of patients with CVID (15min). Lucie Grodecká, Hana Grombiříková, Jiří Litzman, Tomáš Freiberger: C1 inhibitor gene promoter mutations: potential role in hereditary angioedema development (15min). 10.30am10.45am Coffee Break 10.45am-12am B cells, other immunodeficiences Tomáš Freiberger: Spectrum of the BTK gene mutations in Czech XLA patiens (10 min). Baerbel Keller: CD21low B cells – an activated B cell population exposed to type I interferon (15min) Zita Trávníčková: Functional testing of antibody production on the B cell level (10 min). Vojtěch Thon: The European study of distinct clinical phenotypes of Common Variable Immunodeficiency Disorders (15 min). 12am-1pm Lunch 1pm-3pm Innate immunity and regulatory defects Eleonora Gambinieri (ESID Juniors): IPEX – genotype/phenotype correlation, hints for the diagnosis and overview on therapeutic approaches (45min) Marco Gattorno: Diagnosis and Management of Autoinflammatory Diseases in Childhood (45min). Andrea Poloučková: Early onset sarcoidosis – case report (10 min). Nadine Voelxen: Defective activation and signaling of B cells in persistent polyclonal B cell lymphocytosis (PPBL) (10min) Jeannet Botros: Pattern of Chediak Higashi Syndrome in Egyptian Children: A variant with Hyperpigmentation of the skin and a subtle clinical course (10min) 3pm-3.15pm Coffee Break 3.15pm-4.30pm Case reports and Varia Mariela Milla Pimentel: Atopic Dermatitis vs Hyper IgE syndrome (15 min). Filomeen Haerynck: Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin 12RB1 chain (20min) Hana Kayserová.: Our experiences with the interferon-gama treatment in patients with Chronic granulomatous disease (10min) Pařízková, Rozsíval: A boy with chronic EBV disease and hypogammaglobulinaemia - suspected XLP-ID disease (10 min). Aleš Janda: Intractable colitis with immunodeficiency of unknown cause in an infant (15min)