A phenotypic approach for IUIS PID classification and diagnosis: Guidelines for clinicians at the bedside
Bousfiha AA., Jeddane L., Ailal F., Al Herz W., Conley ME., Cunningham-Rundles C., Etzioni A., Fischer A., Franco JL., Geha RS., Hammarström L., Nonoyama S., Ochs HD., Roifman CM., Seger R., Tang MLK., Puck JM., Chapel H., Notarangelo LD., Casanova JL.
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.