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

doi:10.1007/s10875-014-0003-x

Journal of Clinical Immunology

May 2014, Volume 34, Issue 4, pp 398–424

ICON: The Early Diagnosis of Congenital Immunodeficiencies

Authors
Authors and affiliations

John RoutesEmail author
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

First Online:: 12 March 2014

Received:: 11 December 2013
Accepted:: 17 February 2014

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 immunodeficiencies combined immunodeficiencies severe combined immunodeficiencies diagnosis treatment consensus global-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

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Authors and Affiliations

John Routes
- 1
- 22
Email author
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.Department of PediatricsMedical College of Wisconsin, and Children’s Research InstituteMilwaukeeUSA
2.Department of Pediatric Immunology, BMT Unit, Great North Children’s HospitalNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneUK
3.Department of Pediatrics, Faculty of MedicineKuwait UniversitySafatKuwait
4.Laboratory of Human Genetics of Infectious Diseases, Necker BranchInstitut National de la Santé et de la Recherche MédicaleParisFrance
5.Department of Immunology, Institute of Biomedical SciencesUniversity of São PauloSão PauloBrazil
6.Department of PediatricsThe University of Texas Southwestern Medical CenterDallasUSA
7.Department of PediatricsRambam Medical Centre and B. Rappaport School of Medicine, TechnionHaifaIsrael
8.Department of Sciences for Woman and Child’s Health, Anna Meyer Children’s Hospital, Haematology-Oncology Department, BMT UnitUniversity of FlorenceFlorenceItaly
9.Department of Pediatrics and Department of Microbiology and ImmunologyUniversity of Montreal, CHU Sainte-Justine Research CenterMontrealCanada
10.Department of PediatricsEmory UniversityAtlantaUSA
11.Department of Microbiology and Immunology and Department of PediatricsUniversity of Montreal, CHU Sainte-Justine Research CenterMontrealCanada
12.Department of PediatricsNational Defense Medical CollegeTokorozawaJapan
13.Instituto de Medicina Integral Prof. Fernando Figueira-IMIPRecifeBrazil
14.Department of PediatricsUniversity of Miami Miller School of MedicineMiamiUSA
15.Study Center of Primary ImmunodeficienciesAssistance Publique Hôpitaux de Paris, Necker HospitalParisFrance
16.Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Medical SchoolParis Descartes UniversityParisEU
17.Research Center for Immunodeficiencies, Children’s Medical CenterTehranIran
18.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran
19.Division of Allergy and ImmunologyDuke University School of MedicineDurhamUSA
20.Division of Allergy and ImmunologyThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
21.University of Washington School of MedicineSeattleUSA
22.Medical College of WisconsinMACC Fund Research CenterMilwaukeeUSA

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ICON: The Early Diagnosis of Congenital Immunodeficiencies

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