Meetings
2005 Primary Immunodeficiency Diseases
Consortium Conference
Abstracts
Stuart Turvey, MD PhD
BC Children's Hospital
Toll-Like Receptor Signaling in Pneumococcal Disease
Philip Zoltick, MD
Children's Hospital of Philadelphia
Gene Therapy for X-Linked Hyper-IgM Syndrome
Meridith Lee Heltzer, MD
A Potential Screening Tool of IPEX Syndrome
Lisa Kobrynski, MD
Emory University
Variable Phenotype in IPEX with a novel mutation
Joao B. Oliveira Filho, MD
NIH - Immunology Service
Up Regulation of c-PLIPs in a subgroup of patients with ALPS type III
Kimberly Risma, MD PhD
Cincinnati Children's Hospital Med Ctr
Ectodermal dysplasia with immunodeficiency and lymphedema, but not osteopetrosis, is associated with a unique NF-kB Essential Modulator (NEMO) mutation
Pasqualina Ferri, MD
Department of Pediatrics "Federico U"
Functional Characterization of Patients With Autoimmunity and Defective Lymphocyte Apoptosis: Role of Caspases
Troy R. Torgerson, MD PhD
University Of Washington
Phenotype and Genotype Distribution in a Large Cohort of Patients with IPEX Syndrome
Manish J. Butte, MD PhD
Children's Hospital Boston
Microfluidic device for low-cost screening of newborns for Severe Combined Immune Deficiency
Beatriz Tavares Costa Carvalho, MD
Federal University of Sao Paulo
Evaluation of primary immunodeficiency (PID) awareness among pediatricians in Brazil
Blythe Devlin, PhD
Duke University Medical Center
Time course of Normalization of T Cell Receptor Pepertoire in a Complete DiGeorge Syndrome Patient Post Thymus Transplantation
Kimberly Gilmour, PhD
Great Ormond Street Hospital, Immunology
Flow Cytometry Based Diagnosis of Primary Immunodeficiency
Yoshikazu Morimoto, MD PhD
National Jewish Medical and Research
Human Herpresvirus Type 8 (HHV8) infection in lymphoproliferative disorders in patients with Common Variable Immunodeficiency (CVID)
Julia Horn
ICOS Deficiency: News and Views on Clinics and Pathogenesis
Klaus Warnatz, MD
Albert-ludwigs University Of Freiburg
Strength and weakness of B cell phenotype based Classification of patients with common variable immunodeficiency
Emanuela Castigli, PhD
Children's Hospital, Immunology Division
The TACI gene is mutated in common variable immunodeficiency and IgA deficiency.
Adina Kay Knight, MD
Mount Sinai School of Medicine, Clinical
Frequent False Positive beta Human Chorionic Gonadatropin Tests in Immunoglobulin A Deficiency
Lawrence K. L. Jung, MD
Creighton Univ Medical Center
Immunodeficiency associated with multiple intestinal atresia (MIA-CID)
Ashlesh Murthy, MD
University of Texas At San Antonio, Department of Biology
The Contribution of Polymeric Immunoglobulin Receptor in the Regulation of Intestinal Inflammation Upon Dextran Sulfate Sodium Induced Colitis
Punita Ponda, MD
LIJ - Schneider Children's Hospital
IL-7 Receptor alpha-chain mutation Severe Combined Immunodeficiency presenting without lymphopenia: A Case Report
David J. Amrol, MD
University SC School Medicine
X-Linked Lymphoproliferative Disease presenting as pancytopenia in a 10 month old boy
Rosalia Ayuso, MD PhD
Mount Sinai Hospital, School of Medicine
A Case of Chronic EBV-associated NK/T Cell Lymphoma
Edward Behrens, MD
Childrens Hospital of Philadelphia
Secondary hemophagocytic lymphohistiocytosis: clinical and laboratory features in a recent cohort
Gary I. Kleiner, MD PhD
University of Miami
Recurrent Hemophagocytic Lymphohistiocytosis Syndrome (HLH) in a patient with common variable immune deficiency
Frank Pessler, MD PhD
Children's Hospital of Philadelphia
Secondary hemophagocytic lymphohistiocytosis: clinical and laboratory features in a recent cohort
Ellen Renner, MD
University of Washington School of Medicine
Impaired response to a t cell depended neoantigen (bacteriophage 0X174) in patients with Comel-Netherton syndrome
Leonard Zon, MD
Professor of Pediatric Medicine at Harvard Medical School
The Use of the Zebrafish to Understand Immunity
Antonio Condino-Neto, MD PhD
State University Campinas Med School
A girl who presented BCGitis, immunodeficiency and improved with age. What is the diagnosis? A case report.
Shiang-Ju Kung, MD
Thomas Jefferson University, Division of Allergy, Asthma & Clinical Immunology
Oculocutaneous Albinism and combines immunodeficiency - an enigma
Macarena Lagos, MD
University of Valparaiso
Case Abstract
Marielly Herrera, MD
FunvIDP
Food Allergy in three patients with Hyper IgE syndrome
Laszlo Marodi, MD, PhD, DSc
University of Debrecen School of Medicine
Characterization of a new disease-causng mutation in a family with X-linked lymphoproliferative disease
Judi Miller
Octapharma USA, Inc., Medical Affairs
Clinical Differentiation of IVIG Preparations
Lisa Moreno, MD
Long Island Jewish Hospital-North Shore
Ataxia-Telangiectasia Diagnosed after Adenoidectomy: A Case Report
Elena E. Perez, MD PhD
Children's Hospital Of Philadelphia
Case Report: Reticular Dysgenesis Presenting with Profound Neutropenia
Gesmar Rodrigues Segundo, MD PhD
Federal University of Uberlandia
Presumed Disseminated Mycobacteria and severe lymphopenia
Vivek U. Rao, MD
Hospital of University of Pennsylvania
Case Presentation
Jose Luis Franco, MD
University of Antioqua
Clinical Case: Patient YTR, agammaglobulinemia
Eleonora Gambineri
University Of Washington
A case of antibody deficiency: CVID or XLA?
Jennifer Maloney, MD
Mount Sinai - Division of Allergy / Immunology
A Case of Common Variable Immunodeficiency in a Patient with Recurrent Myopericarditis
M. Louise Markert, MD PhD
Duke University Medical Center
Parathyroid and Thymus Transplantation in Complete DiGeorge Syndrome
Andrew Zeft, MD
Childrens Hospital and Regional Medical Center
Unusual Presentations of Chroninc Granulomatous Disease in a Pediatric Rheumatology Clinic
Claudia Lopez-Enriquez, MD
Hospital Infantil De Mexico Federico Comez, Infectology Department
First Report of Impaired Interferon Gamma-Mediated Immunity in Mexico
Antonella Cianferoni, MD
Boston Children's Hospital
Bilateral lower leg swelling and lymphocytic panniculitis in a patient with XLA
Sara Kashef, MD
Shivaz University Of Medical Sciences
Hyper IgM Syndrome Associated with Isolated Growth Hormone Deficiency
Huanliang Liu, MD, PhD
University of Miami School of Medicine, Dept of Microbiology and Immunology
RANTES genetic polymorphisms: prevalence and disease modifying effect
Archana R. Narayan, MD
Nassau University Medical Center
Case Report: A Subclinical Presentation of Common Variable Immunodeficiency
Prashant P. Ponda, MD
Mount Sinai Medical Center
Subcutaneous Immunoglobulin Infusion in a Patient with Common Variable Immunodeficiency who was Unable to Tolerate Intraveneous Administration
Christine M. Seroogy, MD
University Of Wisconsin
Case Presentation: Healthy 2 year old Female with Recurrent Herpes Simplex Virus (HSV) Infection and Normal NK Cell Function
Amy Wagelie-Steffen, MD
UC San Diego, Department of Medicine, Division of Allergy/Immunology
A Case of Wiskott-Aldrich Syndrome with Cutaneous Carcinoma