A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside (original) (raw)
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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Abbreviations
αFP:
Alpha- fetoprotein
Ab:
Antibody
AD:
Autosomal dominant inheritance
ADA:
Adenosine deaminase
Adp:
Adenopathy
AIHA:
Auto-immune hemolytic anemia
AML:
Acute myeloid leukemia
Anti PSS:
Anti- pneumococcus polysaccharide antibodies
AR:
Autosomal recessive inheritance
BL:
B lymphocyte
CAPS:
Cryopyrin-associated periodic syndromes
CBC:
Complete blood count
CD:
Cluster of differentiation
CGD:
Chronic granulomatous disease
CID:
Combined immunodeficiency
CINCA:
Chronic infantile neurologic cutaneous and articular syndrome
FCM*:
Flow cytometry available
CMML:
Chronic myelo-monocytic leukemia
CNS:
Central nervous system
CVID:
Common variable immunodeficiency disorders
CT:
Computed tomography
CTL:
Cytotoxic T-lymphocyte
DA:
Duration of attacks
Def:
Deficiency
DHR:
DiHydroRhodamine
Dip:
Diphtheria
EBV:
Epstein-barr virus
EDA:
Anhidrotic ectodermal dysplasia
EDA-ID:
Anhidrotic ectodermal dysplasia with immunodeficiency
EO:
Eosinophils
FA:
Frequency of attacks
FCAS:
Familial cold autoinflammatory syndrome
FISH:
Fluorescence in situ hybridization
GI:
Gastrointestinal
Hib:
Haemophilus influenzae serotype b
HIDS:
Hyper IgD syndrome
HIES:
Hyper IgE syndrome
HIGM:
Hyper Ig M syndrome
HLA:
Human leukocyte antigen
HSM:
Hepatosplenomegaly
Hx:
Medical history
Ig:
Immunoglobulin
IL:
Interleukin
LAD:
Leukocyte adhesion deficiency
MKD:
Mevalonate kinase deficiency
MSMD:
Mendelian susceptibility to mycobacteria disease
MWS:
Muckle-Wells syndrome
N:
Normal, not low
NK:
Natural killer
NKT:
Natural killer T cell
NN:
Neonate
NOMID:
Neonatal onset multisystem inflammatory disease
NP:
Neutropenia
PAPA:
Pyogenic sterile arthritis pyoderma gangrenosum, Acne syndrome
PMN:
Neutrophils
PT:
Platelet
SCID:
Severe combined immune deficiencies
Sd:
Syndrome
SLE:
Systemic lupus erythematosus
SPM:
Splenomegaly
Subcl:
IgG subclass
TCR:
T-cell receptor
Tet:
Tetanus
TL:
T lymphocyte
TNF:
Tumor necrosis factor
TRAPS:
TNF receptor-associated periodic syndrome
WBC:
White blood cells
XL:
X-linked
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Acknowledgments
We thank Dr Capucine Picard and Dr Claire Fieschi for their contribution to this work.
Author information
Authors and Affiliations
- Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II University, 60, rue 2, Quartier Miamar, Californie, Casablanca, Morocco
Ahmed Aziz Bousfiha - Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco
Leïla Jeddane & Fatima Ailal - Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait
Waleed Al Herz - Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait
Waleed Al Herz - Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA
Mary Ellen Conley - Department of Immunology, St. Jude Children’s Research Hospital, Memphis, TN, USA
Mary Ellen Conley - Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
Charlotte Cunningham-Rundles - Meyer’s Children Hospital– Technion, Haifa, Israel
Amos Etzioni - Pediatric Hematology- Immunology Unit, Hôpital Necker Enfants-Malades, Assistance Publique–Hôpital de Paris, Necker Medical School, Paris Descartes University, Paris, France
Alain Fischer - Group of Primary Immunodeficiencies, University of Antioquia, Medellín, Colombia
Jose Luis Franco - Division of Immunology, Children’s Hospital Boston, Boston, MA, USA
Raif S. Geha & Luigi D. Notarangelo - Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
Lennart Hammarström - Department of Pediatrics, National Defense Medical College, Saitama, Japan
Shigeaki Nonoyama - Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle, WA, USA
Hans D. Ochs - Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada
Chaim M. Roifman - Division of Immunology, University Children’s Hospital, Zürich, Switzerland
Reinhard Seger - Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, Melbourne, VIC, Australia
Mimi L. K. Tang - Murdoch Children’s Research Institute, Melbourne, VIC, Australia
Mimi L. K. Tang - Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
Mimi L. K. Tang - Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA, USA
Jennifer M. Puck - Clinical Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK
Helen Chapel - The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Boston, MA, USA
Luigi D. Notarangelo - St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
Jean-Laurent Casanova - Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, University Paris Descartes and INSERM U980, Paris, France
Jean-Laurent Casanova
Authors
- Ahmed Aziz Bousfiha
You can also search for this author inPubMed Google Scholar - Leïla Jeddane
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Correspondence toAhmed Aziz Bousfiha.
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Bousfiha, A.A., Jeddane, L., Ailal, F. et al. A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside.J Clin Immunol 33, 1078–1087 (2013). https://doi.org/10.1007/s10875-013-9901-6
- Received: 11 December 2012
- Accepted: 09 April 2013
- Published: 09 May 2013
- Issue Date: August 2013
- DOI: https://doi.org/10.1007/s10875-013-9901-6