2nd São Paulo Advanced School on Primary Immunodeficiencies

The 2nd São Paulo Advanced School on Primary Immunodeficiencies focuses on the subject of the autoimmunity and immunodeficiency interface. The goal is to understand the mechanisms for induction and maintenance of tolerance to the own antigens – a major theme in Immunology. A high-level group of international and Brazilian researchers gathers in the meeting. Beyond the lectures, the school contemplates many activities, such as student presentations, poster viewing session, discussion of practical aspects of patient management, and so on. This is the second ESPCA within the theme of primary immunodeficiencies (PIDs), the first held in November 2010 in the first call of this program. PIDs are a large and heterogeneous group of about 180 different monogenics defects, considered as true "knock-outs", whose study represents a unique opportunity, still little explored, to understand how the human immune system. While ESPCA-PID I focused on the study of the physiology of the immune system, in particular the mechanisms of resistance in the second we intend to address the interface between auto-immunities and immunodeficiency, seeking to understand the mechanisms of induction and maintenance of tolerance to antigens – a key issue within the Immunology.
  • Institution

    Faculdade de Medicina / Universidade de São Paulo

  • Field of Knowledge


  • Academic Director

    Magda Maria Sales Carneiro-Sampaio

  • Grant Number


  • Date

    2013-03-03 to 2013-03-08

  • Registration Deadline


  • Site


  • City

    São Paulo

  • Keywords

    Innate immunity, Gene therapy, Autoimmunity, Thymus

  • Program Hide
    March 3th (Sunday)
    06:00 PM Opening Ceremony
    Dean of Faculdade de Medicina da USP
    Head of Department of Pediatrics of FMUSP
    FAPESP Representative (Prof. Hernan Chaimovic)
    Members of the II ESPCA-PID Organizing Committee
    II ESPCA-PID professors and students
    Immunity and Autoimmunity: Diane Mathis (USA)
    07:00 PM Dinner (sponsored by Nestlé)
    March 4th (Monday)
    8:30 – 12:15h AM Session I
      Coordinators: Magda Carneiro-Sampaio (Brazil) and Luiz Vicente Rizzo (Brazil)
      8:30 - Lights, camera, action!: visualizing the dynamics of the immune system - Ronald N. Germain (USA)
      9:15 – PIDs worldwide: more common than generally thought - Nizar Mahlaoui (France)
      9:45 – Student presentation 1
    Loss of central and peripheral tolerance mechanisms leading to autoimmune manifestations in ADA-deficient SCID
    Aisha V. Sauer (Italy)
      10:00 – Coffee Break
      10:30 – Systems Biomedicine - What is it and why should you want to know about it? Ronald N. Germain (USA)
      11:15 – The expanding clinical and immunological spectrum of severe combined immunodeficiency - Andrew Gennery (UK)
      12:00 – Interval for lunch and poster viewing session
    (coordinators – Ana Paula Moschione Castro (Brazil) and Eduardo Borba (Brazil)]
    2:00 – 5:30h AM Session II
      Coordinators: Cristina Miuki Abe Jacob (Brazil) and Matias Oleastro (Argentina)
      2:00 - The spectrum of clinical presentations of RAG mutations –Jolan E. Walter (USA)
      2:45 - Student presentation 2
    Recurrent episodes of distinct B cell lymphomas in a SCID patient with RAG1 homozygous mutation treated by allogenic matched related stem cell transplantation - Jonathan Lacombe Barrios(Canada)
      3:00 – Neonatal screening for Primary Immunodeficiencies: the US experience – John Routes (USA)
      3:45 – Coffee Break
      4:15 – Student presentation 3
    A familial cluster of CD3 deficiency presenting with different phenotypes - Luciana Cunha (Brazil)
      4:30 – Student presentation 4
    A novel reporter assay for RAG targets and RAG activity - Inês Trancoso (Portugal)
      4:45 – NK cells role in health and disease Jordan Orange (Usa)
      5:30 - Practical aspects of PID patient management:
    Preparing PID patient for hematopoietic stem cell transplantation
    Andrew Gennery (UK), Nizar Mahlaoui (France) and Juliana F. Fernandes (Brazil, coordinator)
    March 5th (Tuesday)
    8:30 – 12:15h AM Session III
      Coordinators: Luis Eduardo Coelho Andrade (Brazil) andCristina Miuki Abe Jacob (Brazil)
      8:30 - Defects of central tolerance: the role of AIRE and AIRE’s partners - Diane Mathis (USA)
      9:15 - Chromosome 22q11.2 deletion: a not so rare cause of thymus development defects - Adrew Gennery (UK)
      10:00 – Break
      10:30 – Thymus transplantation: the experience of Duke University Hospital, USA – Mary Louise Markert (USA)
      11:15 – Pathogen-induced thymic involution – Georg Holländer(UK)
      12:00 – interval for lunch and poster viewing session
    (coordinators – Antonio Carlos Pastorino (Brazil) and MYRTHES TOLEDO-BARROS (Brazil) ]
    2:15 – 5:30h PM Session IV
      Coordinators: Alberto Duarte (Brazil) and Antonio Carlos Pastorino (Brazil)
      2:00 - What do editors want from the authors? MAURICIO ROCHA E SILVA – Editor of CLINICS (Brazil)
      2:45 - Transcriptional interaction networks in human thymus in the first 2 years of life – CARLOS A. MOREIRA-FILHO (Brazil)
      3:15 - The role of miRNAs in the maintenance and function of the thymic epithelial cell – GEORG HOLLÄNDER (UK)
      04:00 – Break
      04:30 – Uncovering the genetic basis of CVID – JORDAN ORANGE (USA)
      5:15 – Student presentation 5

    Influenza immunization reduces respiratory infections in CVID patients
    Ana Karolina Barreto de Oliveira (Brazil)
      5:30 - Practical aspects of PID patient management:

    Vaccines in PID patients

    Jordan Orange(USA), Andrew Gennery(UK) and Matias Oleastro (Argentina)
    March 6th (Wednesday)
    8:30 – 12:15h AM Session V
      Coordinators: Jorge Kalil (Brazil) and Cristina Maria Kokron(Brazil)
      8:30 – B cell tolerance in humans: lessons from PIDs - Eric Mefré(USA)
      09:15 - Autoimmune complications of CVID - Luiz Vicente Rizzo(Brazil)
      10:00 – Break
      10:30 – Student presentation 6

    IgG Fc receptor activity is in vivo under complement control
    Eveline Wu (USA)
      10:45 - TACI mutations associated with CVID impairs autoreactive B-cell selection and activation - Eric Meffré (USA)
      11:30 – Agammaglobulinemia – Mary Louise Markert (USA)
      12:15 – Interval for lunch and poster viewing session
    [Adriana Maluf Sallum (Brazil) and Maria Francisca Moraes Fontes Portugal)]
    2:00 – 5:30h PM Session VI
      Coordinators: Esper Kallas (Brazil) and Beatriz Costa carvalho(Brazil)
      2:00 - Applications of flow cytometry for the study of PIDs -Thomas Fleisher (USA)
      2:45 - Student presentation 7

    Infliximab treatment in a CVID patient with severe non-infectious manifestations
    Ana Serra-Caetano (Portugal)
      3:00 - Student presentation 8

    ALPS due to Fas mutation: a case with non-expanded TCR DNT cells
    Maria Raquel Mitchell (Argentina)
      3:15 – Immunodeficiency, autoinflammation and amylopectinosis with inherited HOIL-1 and LUBAC deficiency Carolina Prando(Brazil) – an Emerging Leader
      4:00 – Coffee break
      4:30 – How PIDs have contributed to understand immunity to infection? - Steven M. Holland (USA)
      5:15 – Student presentation 9

    Pulmonary tomographic and functional abnormalities in patients with primary hypogammaglobulinemia receiving IVIg replacement therapy
    Mayra Barros Dorna (Brazil)
      5:30 - Practical aspects of PID patient management:

    Management of IVIg adverse reactions

    Nizar Mahlaoui (France), Andrew Gennery(UK), and Antonio C. Pastorino(Brazil)
    March 7th (Thursday)
    8:30 – 12:15h AM Session VII
      Coordinators: Niels Olsen Saraiva Câmara (Brazil) andDewton Moraes-Vasconcelos (Brazil)
      8:30 - Primary Immunodeficiencies due to defects of Innate Immunity mechanisms: different patterns of susceptibility to infections and to autoimmune disorders - Steven M. Holland(USA)
      9:15 -STAT1: one gene and many diseases – Gulbu Uzel (USA) – an Emerging Young Leader
      10:00 – Break
      10:30 – Student presentation 10

    Gastrointestinal manifestations in autosomal recessive Chronic Granulomatous Disease
    Emilia Liana Falcone (USA)
      10:45 – Monogenic defects of lymphocyte apoptosis - João Bosco Oliveira (Brazil)
      11:30 – Pitfalls in the genetic studies of PIDs - Thomas Fleisher(USA)
      12:15 pm - interval for lunch and poster viewing session
    [coordinators – Maria Tereza Terreri (Brazil) and Lucia Maria Mattei Campos (Brazil)]
    2:15 – 5:00h PM Session VIII – Hemophagocytic lymphohistiocytosis (HLH): when the immune system runs amok
      Coordinators: Werther Brunow de Carvalho (Brazil) andEdécio Cunha-Neto (Brazil)
      2:00 - Physiology of cytotoxic granules at the immune synapse -Geneviève de Saint-Basile (France)
      2:45 - Student presentation 11

    Distinct severity of HLH in both humans and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A and STX11
    Fernando Sepulveda (France)
      2:45 – Molecular basis and pathophysiology of Familial HLH -Geneviève de Saint-Basile (France)
      3:15 - Student presentation 12

    Griscelli syndrome type 2
    Sanny Chan (USA)
      3:30 – Break
      4:00 – Student presentation 13

    Are hemophagocytes the real villains in Hemophagocytic Lymphohistiocytosis?
    Ana Patricia Costa Reis (USA)
      4:15 Acquired HLH: macrophage activation syndrome – Aan Paola Navarette Lotito (Brazil)
      4:45 – Student presentation 14

    Systemic lupus erythematosus and PIDs: a possible association also in adults?
    Sandro Perazzio (Brazil)
      5:00 – Practical aspects of PID patient management:

    Management of infections in PID patients, mainly the opportunistic ones

    Steven Holland (USA), Aluisio Segurado(Brazil) , and Cristina Miuki Abe Jacob(Brazil)
    March 8th (Friday)
    8:30 – 12:15h AM Session IX - Autoinflammatory diseases: innate immunity autoaggression
      Coordinators: Sonia Jancar (Brazil) and João Bosco Oliveira(Brazil)
      8:30 - Inflammasome in health and disease - Alessandra Pontillo(Brazil)
      9:00 – Cryopyrin associated periodic fever syndrome (CAPS) clinical case -Simone Appenzeller (Brazil) – An Emerging Leader
      9:15 – Cryopyrin associated periodic fever syndrome (CAPS) clinical case -Raphaela Goldbach-Mansky (USA)
      10:00 – Break
      10:30 – Student presentation 15

    Familial Mediterranean Fever
    Cecília Herminia Montenegro Pucci (Uruguay)
      10:45 – Hereditary autoinflammatory syndromes: a Brazilian multicenter study - Adriana Almeida de Jesus (USA/Brazil) – an Emerging Leader
      11:05 – Pyogenic disorders (DIRA, DITRA, PAPA and Majeed syndromes) - Hatem El-Shanti (Qatar)
      11:50 – Interval for lunch
    2:15 – 5:30h PM Session X
      Coordinators: Luis Eduardo Coelho Andrade (Brazil) andClovis Artur Almeida Silva (Brazil)
      1:30 - Proteasome associated autoinflammatory syndromes (PRAAS) - Raphaela Goldach-Mansky (USA)
      2:15 – Student presentation 16

    TNF Receptor Associated Periodic Syndrome (TRAPS) clinical case
    Marco Felipe Silva (Brazil)
      2:30 - Protein folding disorders of innate immune system - TNF Receptor-Associated Periodic Syndrome (TRAPS) - JOÃO BOSCO OLIVEIRA (USA)
      3:15 – NOD2/CARD15 related granulomatous diseases - ADRIANA ALMEIDA DE JESUS (Brazil)
      3:30 – Student presentation 17

    Mevalonate kinase deficiency clinical case
      3:45 – Closing Lecture

    Genetics and Epidemiology of the autosomal recessive diseases: familial Mediterranean fever and mevalonate kinase deficiency -HATEM EL-SHANTI (Qatar)
      4:30 – Farewell cocktail