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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
A phenotypic approach for IUIS PID classification and diagnosis: Guidelines for clinicians at the bedside
Journal of Clinical Immunology, Volume 33, No. 6, Year 2013
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Description
The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinician's observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way. We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since. © 2013 Springer Science+Business Media New York.
Authors & Co-Authors
Bousfiha, Ahmed Aziz
Morocco, Casablanca
Hassan Ii University of Casablanca
Jeddane, Leïla
Morocco, Casablanca
Hassan Ii University of Casablanca
Aïlal, Fatima
Morocco, Casablanca
Hassan Ii University of Casablanca
Al-Herz, Waleed
Kuwait, Kuwait City
Kuwait University
Kuwait
Al-sabah Hospital
Conley, Mary Ellen
United States, Memphis
University of Tennessee College of Medicine Memphis
United States, Memphis
St. Jude Children's Research Hospital
Cunningham Rundles, Charlotte H.
United States, New York
Icahn School of Medicine at Mount Sinai
Etzioni, Amos
Israel, Haifa
Technion - Israel Institute of Technology
Fischer, Alain M.
France, Paris
Hôpital Necker Enfants Malades
Franco, Josè Luis
Colombia, Medellin
Universidad de Antioquia
Geha, Raif S.
United States, Boston
Boston Children's Hospital
Hammarström, Lennart L.G.
Sweden, Stockholm
Huddinge University
Nonoyama, Sliigeaki
Japan, Tokorozawa
National Defense Medical College Tokorozawa
Ochs, Hans Dieter
United States, Seattle
University of Washington
Roifman, Chaim M.
Canada, Toronto
Hospital for Sick Children University of Toronto
Seger, Reinhard A.
Switzerland, Zurich
Kinderspital Zürich
Tang, Mimi L.K.
Australia, Melbourne
Royal Children's Hospital, Melbourne
Australia, Melbourne
Murdoch Children's Research Institute
Australia, Melbourne
University of Melbourne
Puck, Jennifer M.
United States, San Francisco
Ucsf Benioff Children‘s Hospital
Chapel, Helen M.
United Kingdom, Oxford
Nuffield Department of Medicine
Notarangelo, Luigi Daniele
United States, Boston
Boston Children's Hospital
Casanova, Jean Laurent
United States, New York
Rockefeller University
France, Paris
L'institut Des Maladies Génétiques Imagine
Statistics
Citations: 20
Authors: 20
Affiliations: 22
Identifiers
Doi:
10.1007/s10875-013-9901-6
ISSN:
02719142
e-ISSN:
15732592