A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside

摘要: The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. biennial classification published by IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding disease-causing genotypes, immunological anomalies, and associated clinical features PIDs. These are grouped eight, somewhat overlapping, categories immune dysfunction. However, based on this classification, diagnosis a specific from clinician's observation an individual and/or phenotype remains difficult, for non-PID specialists. purpose work to suggest phenotypic that forms basis diagnostic trees, leading physician particular groups PIDs, starting combining routine investigations along way. We present 8 colored figures correspond Classification, including all PIDs cited 2011 update most those reported since.