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.
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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
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DOI: https://doi.org/10.1007/s10875-013-9901-6