Journal of Clinical Immunology

, Volume 34, Issue 4, pp 398–424

ICON: The Early Diagnosis of Congenital Immunodeficiencies

  • John Routes
  • Mario Abinun
  • Waleed Al-Herz
  • Jacinta Bustamante
  • Antonio Condino-Neto
  • Maria Teresa De La Morena
  • Amos Etzioni
  • Eleonora Gambineri
  • Elie Haddad
  • Lisa Kobrynski
  • Francoise Le Deist
  • Shigeaki Nonoyama
  • Joao Bosco Oliveira
  • Elena Perez
  • Capucine Picard
  • Nima Rezaei
  • John Sleasman
  • Kathleen E. Sullivan
  • Troy Torgerson
Key Review Article

DOI: 10.1007/s10875-014-0003-x

Cite this article as:
Routes, J., Abinun, M., Al-Herz, W. et al. J Clin Immunol (2014) 34: 398. doi:10.1007/s10875-014-0003-x

Abstract

Primary immunodeficiencies are intrinsic defects in the immune system that result in a predisposition to infection and are frequently accompanied by a propensity to autoimmunity and/or immunedysregulation. Primary immunodeficiencies can be divided into innate immunodeficiencies, phagocytic deficiencies, complement deficiencies, disorders of T cells and B cells (combined immunodeficiencies), antibody deficiencies and immunodeficiencies associated with syndromes. Diseases of immune dysregulation and autoinflammatory disorder are many times also included although the immunodeficiency in these disorders are often secondary to the autoimmunity or immune dysregulation and/or secondary immunosuppression used to control these disorders. Congenital primary immunodeficiencies typically manifest early in life although delayed onset are increasingly recognized. The early diagnosis of congenital immunodeficiencies is essential for optimal management and improved outcomes. In this International Consensus (ICON) document, we provide the salient features of the most common congenital immunodeficiencies.

Keywords

Primary immunodeficienciescombined immunodeficienciessevere combined immunodeficienciesdiagnosistreatmentconsensusglobal-consensus

Abbreviations

AD-EDA-ID

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency

AD-HIES

Autosomal dominant hyper IgE syndrome

AR-HIES

Autosomal recessive hyper IgE syndrome

AT

Ataxia telangiectasia

ATM

Ataxia-telangiectasia mutated

BCG

Bacillus Calmette-Guérin

CGD

Chronic granulomatous disease

CID

Combined immunodeficiencies

CMC

Chronic Mucocutaneous Candidiasis

CSR

Class switch recombination

DHR

Dihydrorhodamine–1,2,3

EDA

Anhidrotic ectodermal dysplasia

G-CSF

Granulocyte colony-stimulating factor

GVHD

Graft-versus-host disease

HSCT

Hematopoietic stem-cell transplantation

HSE

Herpes simplex encephalitis

HSV1

Herpes simplex virus type 1

ICON

International consensus

IVIG

Intravenous immunoglobulin

LAD-I

Leukocyte adhesion deficiency type I

LAD-II

Leukocyte adhesion deficiency type II

LAD-III

Leukocyte adhesion deficiency type III

MSMD

Mendelian susceptibility to mycobacterial diseases

NBS

Newborn screening

NBT

Nitroblue tetrazolium

OSM

Oncostatin M

PID

Primary immunodeficiency

SCID

Severe combined immunodeficiency

SHM

Somatic hyper mutation

STAT3

Signal transducer and activator of transcription 3

TIR

Toll-IL-1R

TLR

Toll-like receptors

TREC

T cell receptor excision circle

WAS

Wiskott-Aldrich syndrome

WASp

Wiskott-Aldrich syndrome protein

XHIGM

X-linked hyper IgM

XLA

X-linked agammaglobulinemia

XLT

X-linked thrombocytopenia

XR-EDA-ID

X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • John Routes
    • 1
    • 22
  • Mario Abinun
    • 2
  • Waleed Al-Herz
    • 3
  • Jacinta Bustamante
    • 4
  • Antonio Condino-Neto
    • 5
  • Maria Teresa De La Morena
    • 6
  • Amos Etzioni
    • 7
  • Eleonora Gambineri
    • 8
  • Elie Haddad
    • 9
  • Lisa Kobrynski
    • 10
  • Francoise Le Deist
    • 11
  • Shigeaki Nonoyama
    • 12
  • Joao Bosco Oliveira
    • 13
  • Elena Perez
    • 14
  • Capucine Picard
    • 15
    • 16
  • Nima Rezaei
    • 17
    • 18
  • John Sleasman
    • 19
  • Kathleen E. Sullivan
    • 20
  • Troy Torgerson
    • 21
  1. 1.Department of PediatricsMedical College of Wisconsin, and Children’s Research InstituteMilwaukeeUSA
  2. 2.Department of Pediatric Immunology, BMT Unit, Great North Children’s HospitalNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneUK
  3. 3.Department of Pediatrics, Faculty of MedicineKuwait UniversitySafatKuwait
  4. 4.Laboratory of Human Genetics of Infectious Diseases, Necker BranchInstitut National de la Santé et de la Recherche MédicaleParisFrance
  5. 5.Department of Immunology, Institute of Biomedical SciencesUniversity of São PauloSão PauloBrazil
  6. 6.Department of PediatricsThe University of Texas Southwestern Medical CenterDallasUSA
  7. 7.Department of PediatricsRambam Medical Centre and B. Rappaport School of Medicine, TechnionHaifaIsrael
  8. 8.Department of Sciences for Woman and Child’s Health, Anna Meyer Children’s Hospital, Haematology-Oncology Department, BMT UnitUniversity of FlorenceFlorenceItaly
  9. 9.Department of Pediatrics and Department of Microbiology and ImmunologyUniversity of Montreal, CHU Sainte-Justine Research CenterMontrealCanada
  10. 10.Department of PediatricsEmory UniversityAtlantaUSA
  11. 11.Department of Microbiology and Immunology and Department of PediatricsUniversity of Montreal, CHU Sainte-Justine Research CenterMontrealCanada
  12. 12.Department of PediatricsNational Defense Medical CollegeTokorozawaJapan
  13. 13.Instituto de Medicina Integral Prof. Fernando Figueira-IMIPRecifeBrazil
  14. 14.Department of PediatricsUniversity of Miami Miller School of MedicineMiamiUSA
  15. 15.Study Center of Primary ImmunodeficienciesAssistance Publique Hôpitaux de Paris, Necker HospitalParisFrance
  16. 16.Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Medical SchoolParis Descartes UniversityParisEU
  17. 17.Research Center for Immunodeficiencies, Children’s Medical CenterTehranIran
  18. 18.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran
  19. 19.Division of Allergy and ImmunologyDuke University School of MedicineDurhamUSA
  20. 20.Division of Allergy and ImmunologyThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  21. 21.University of Washington School of MedicineSeattleUSA
  22. 22.Medical College of WisconsinMACC Fund Research CenterMilwaukeeUSA