A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
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 ge...
| Main Authors: | , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
2013
|
| _version_ | 1797071287073374208 |
|---|---|
| author | Bousfiha, A Jeddane, L Ailal, F Al Herz, W Conley, M Cunningham-Rundles, C Etzioni, A Fischer, A Franco, J Geha, R Hammarström, L Nonoyama, S Ochs, H Roifman, C Seger, R Tang, M Puck, J Chapel, H Notarangelo, L Casanova, J |
| author_facet | Bousfiha, A Jeddane, L Ailal, F Al Herz, W Conley, M Cunningham-Rundles, C Etzioni, A Fischer, A Franco, J Geha, R Hammarström, L Nonoyama, S Ochs, H Roifman, C Seger, R Tang, M Puck, J Chapel, H Notarangelo, L Casanova, J |
| author_sort | Bousfiha, A |
| collection | OXFORD |
| 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. |
| first_indexed | 2024-03-06T22:51:08Z |
| format | Journal article |
| id | oxford-uuid:5ece5015-93ee-4431-ab1b-120b8040341b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T22:51:08Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:5ece5015-93ee-4431-ab1b-120b8040341b2022-03-26T17:43:08ZA phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:5ece5015-93ee-4431-ab1b-120b8040341bEnglishSymplectic Elements at Oxford2013Bousfiha, AJeddane, LAilal, FAl Herz, WConley, MCunningham-Rundles, CEtzioni, AFischer, AFranco, JGeha, RHammarström, LNonoyama, SOchs, HRoifman, CSeger, RTang, MPuck, JChapel, HNotarangelo, LCasanova, JThe 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. |
| spellingShingle | Bousfiha, A Jeddane, L Ailal, F Al Herz, W Conley, M Cunningham-Rundles, C Etzioni, A Fischer, A Franco, J Geha, R Hammarström, L Nonoyama, S Ochs, H Roifman, C Seger, R Tang, M Puck, J Chapel, H Notarangelo, L Casanova, J A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. |
| title | A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. |
| title_full | A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. |
| title_fullStr | A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. |
| title_full_unstemmed | A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. |
| title_short | A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. |
| title_sort | phenotypic approach for iuis pid classification and diagnosis guidelines for clinicians at the bedside |
| work_keys_str_mv | AT bousfihaa aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT jeddanel aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT ailalf aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT alherzw aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT conleym aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT cunninghamrundlesc aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT etzionia aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT fischera aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT francoj aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT gehar aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT hammarstroml aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT nonoyamas aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT ochsh aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT roifmanc aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT segerr aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT tangm aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT puckj aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT chapelh aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT notarangelol aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT casanovaj aphenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT bousfihaa phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT jeddanel phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT ailalf phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT alherzw phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT conleym phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT cunninghamrundlesc phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT etzionia phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT fischera phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT francoj phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT gehar phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT hammarstroml phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT nonoyamas phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT ochsh phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT roifmanc phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT segerr phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT tangm phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT puckj phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT chapelh phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT notarangelol phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside AT casanovaj phenotypicapproachforiuispidclassificationanddiagnosisguidelinesforcliniciansatthebedside |