title: A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
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.
authors: Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II University, Californie, Casablanca, Morocco. profbousfiha@gmail.com
authors: Ahmed Aziz
authors: AA
authors: Bousfiha
authors: Leïla
authors: L
authors: Jeddane
authors: Fatima
authors: F
authors: Ailal
authors: Waleed
authors: W
authors: Al Herz
authors: Mary Ellen
authors: ME
authors: Conley
authors: Charlotte
authors: C
authors: Cunningham-Rundles
authors: Amos
authors: A
authors: Etzioni
authors: Alain
authors: A
authors: Fischer
authors: Jose Luis
authors: JL
authors: Franco
authors: Raif S
authors: RS
authors: Geha
authors: Lennart
authors: L
authors: Hammarström
authors: Shigeaki
authors: S
authors: Nonoyama
authors: Hans D
authors: HD
authors: Ochs
authors: Chaim M
authors: CM
authors: Roifman
authors: Reinhard
authors: R
authors: Seger
authors: Mimi L K
authors: ML
authors: Tang
authors: Jennifer M
authors: JM
authors: Puck
authors: Helen
authors: H
authors: Chapel
authors: Luigi D
authors: LD
authors: Notarangelo
authors: Jean-Laurent
authors: JL
authors: Casanova
mesh_terms: D000465:Algorithms; D003937:Diagnosis, Differential; D003955:Diagnostic Tests, Routine / Q000592:standards; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D007159:Immunologic Tests / Q000379:methods; D010641:Phenotype; D017410:Practice Guidelines as Topic
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