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Journal of Clinical Immunology

, Volume 33, Issue 6, pp 1078–1087 | Cite as

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

  • Ahmed Aziz BousfihaEmail author
  • Leïla Jeddane
  • Fatima Ailal
  • Waleed Al Herz
  • Mary Ellen Conley
  • Charlotte Cunningham-Rundles
  • Amos Etzioni
  • Alain Fischer
  • Jose Luis Franco
  • Raif S. Geha
  • Lennart Hammarström
  • Shigeaki Nonoyama
  • Hans D. Ochs
  • Chaim M. Roifman
  • Reinhard Seger
  • Mimi L. K. Tang
  • Jennifer M. Puck
  • Helen Chapel
  • Luigi D. Notarangelo
  • Jean-Laurent Casanova
Original Research

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.

Keywords

Primary immunodeficiency classification IUIS diagnosis tool 

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

Notes

Acknowledgments

We thank Dr Capucine Picard and Dr Claire Fieschi for their contribution to this work.

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Ahmed Aziz Bousfiha
    • 1
    Email author
  • Leïla Jeddane
    • 2
  • Fatima Ailal
    • 2
  • Waleed Al Herz
    • 3
    • 4
  • Mary Ellen Conley
    • 5
    • 6
  • Charlotte Cunningham-Rundles
    • 7
  • Amos Etzioni
    • 8
  • Alain Fischer
    • 9
  • Jose Luis Franco
    • 10
  • Raif S. Geha
    • 11
  • Lennart Hammarström
    • 12
  • Shigeaki Nonoyama
    • 13
  • Hans D. Ochs
    • 14
  • Chaim M. Roifman
    • 15
  • Reinhard Seger
    • 16
  • Mimi L. K. Tang
    • 17
    • 18
    • 19
  • Jennifer M. Puck
    • 20
  • Helen Chapel
    • 21
  • Luigi D. Notarangelo
    • 11
    • 22
  • Jean-Laurent Casanova
    • 23
    • 24
  1. 1.Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II UniversityCasablancaMorocco
  2. 2.Clinical Immunology Unit, A. Harouchi Children Hospital, Ibn Rochd Medical School, King Hassan II UniversityCasablancaMorocco
  3. 3.Department of Pediatrics, Faculty of MedicineKuwait UniversityKuwait CityKuwait
  4. 4.Allergy and Clinical Immunology Unit, Department of PediatricsAl-Sabah HospitalKuwait CityKuwait
  5. 5.Department of PediatricsUniversity of Tennessee College of MedicineMemphisUSA
  6. 6.Department of ImmunologySt. Jude Children’s Research HospitalMemphisUSA
  7. 7.Department of Medicine and PediatricsMount Sinai School of MedicineNew YorkUSA
  8. 8.Meyer’s Children Hospital– TechnionHaifaIsrael
  9. 9.Pediatric Hematology- Immunology Unit, Hôpital Necker Enfants-Malades, Assistance Publique–Hôpital de Paris, Necker Medical School, Paris Descartes UniversityParisFrance
  10. 10.Group of Primary ImmunodeficienciesUniversity of AntioquiaMedellínColombia
  11. 11.Division of Immunology, Children’s Hospital BostonBostonUSA
  12. 12.Division of Clinical Immunology, Department of Laboratory MedicineKarolinska Institute at Karolinska University Hospital HuddingeStockholmSweden
  13. 13.Department of PediatricsNational Defense Medical CollegeSaitamaJapan
  14. 14.Department of PediatricsUniversity of Washington and Seattle Children’s Research InstituteSeattleUSA
  15. 15.Division of Immunology and Allergy, Department of PediatricsThe Hospital for Sick Children and the University of TorontoTorontoCanada
  16. 16.Division of Immunology, University Children’s HospitalZürichSwitzerland
  17. 17.Department of Allergy and ImmunologyRoyal Children’s Hospital MelbourneMelbourneAustralia
  18. 18.Murdoch Children’s Research InstituteMelbourneAustralia
  19. 19.Department of PaediatricsUniversity of MelbourneMelbourneAustralia
  20. 20.Department of PediatricsUniversity of California San Francisco and UCSF Benioff Children’s HospitalSan FranciscoUSA
  21. 21.Clinical Immunology Unit, Nuffield Department of MedicineUniversity of OxfordOxfordUK
  22. 22.The Manton Center for Orphan Disease Research, Children’s Hospital BostonBostonUSA
  23. 23.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller UniversityNew YorkUSA
  24. 24.Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, University Paris Descartes and INSERM U980ParisFrance

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