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A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside |
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| Authors: | Ahmed Aziz Bousfiha Leïla Jeddane Fatima Ailal Waleed Al Herz Mary Ellen Conley Charlotte Cunningham-Rundles Amos Etzioni Alain Fischer Jose Luis Franco Raif S. Geha Lennart Hammarström Shigeaki Nonoyama Hans D. Ochs Chaim M. Roifman Reinhard Seger Mimi L. K. Tang Jennifer M. Puck Helen Chapel Luigi D. Notarangelo Jean-Laurent Casanova |
| Affiliation: | 1. Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II University, 60, rue 2, Quartier Miamar, Californie, Casablanca, Morocco 2. Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco 3. Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait 4. Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait 5. Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA 6. Department of Immunology, St. Jude Children’s Research Hospital, Memphis, TN, USA 7. Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA 8. Meyer’s Children Hospital– Technion, Haifa, Israel 9. Pediatric Hematology- Immunology Unit, H?pital Necker Enfants-Malades, Assistance Publique–H?pital de Paris, Necker Medical School, Paris Descartes University, Paris, France 10. Group of Primary Immunodeficiencies, University of Antioquia, Medellín, Colombia 11. Division of Immunology, Children’s Hospital Boston, Boston, MA, USA 12. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden 13. Department of Pediatrics, National Defense Medical College, Saitama, Japan 14. Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle, WA, USA 15. Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada 16. Division of Immunology, University Children’s Hospital, Zürich, Switzerland 17. Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, Melbourne, VIC, Australia 18. Murdoch Children’s Research Institute, Melbourne, VIC, Australia 19. Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia 20. Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA, USA 21. Clinical Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK 22. The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Boston, MA, USA 23. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA 24. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, University Paris Descartes and INSERM U980, Paris, France |
| Abstract: | 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. |
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