title: ICON: the early diagnosis of congenital immunodeficiencies.
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.
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, and Children's Research Institute, Milwaukee, WI, 53226-4874, USA, jroutes@mcw.edu.
authors.forename: John
authors.initials: J
authors.lastname: Routes
authors.forename: Mario
authors.initials: M
authors.lastname: Abinun
authors.forename: Waleed
authors.initials: W
authors.lastname: Al-Herz
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Antonio
authors.initials: A
authors.lastname: Condino-Neto
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: De La Morena
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.forename: Eleonora
authors.initials: E
authors.lastname: Gambineri
authors.forename: Elie
authors.initials: E
authors.lastname: Haddad
authors.forename: Lisa
authors.initials: L
authors.lastname: Kobrynski
authors.forename: Francoise
authors.initials: F
authors.lastname: Le Deist
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Joao Bosco
authors.initials: JB
authors.lastname: Oliveira
authors.forename: Elena
authors.initials: E
authors.lastname: Perez
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: John
authors.initials: J
authors.lastname: Sleasman
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Sullivan
authors.forename: Troy
authors.initials: T
authors.lastname: Torgerson
mesh_terms: D015551:Autoimmunity; D001402:B-Lymphocytes / Q000187:drug effects / Q000276:immunology / Q000473:pathology; D003165:Complement System Proteins / Q000235:genetics / Q000276:immunology; D042241:Early Diagnosis; D015870:Gene Expression; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000145:classification / Q000175:diagnosis* / Q000276:immunology* / Q000628:therapy; D007155:Immunologic Factors / Q000627:therapeutic use; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods / Q000706:statistics & numerical data*; D009894:Opportunistic Infections / Q000175:diagnosis / Q000276:immunology / Q000517:prevention & control*; D015398:Signal Transduction; D013601:T-Lymphocytes / Q000187:drug effects / Q000276:immunology / Q000473:pathology; D051193:Toll-Like Receptors / Q000235:genetics / Q000276:immunology; D047988:Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / Q000235:genetics / Q000276:immunology
chemical_list: D007155:Immunologic Factors; D051193:Toll-Like Receptors; D047988:Tumor Necrosis Factor Receptor-Associated Peptides and Proteins; D003165:Complement System Proteins