title: Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
abstract: Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study.
  
  
  
  All members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency. An online questionnaire was used to collect the patient data.
  
  
  
  Forty-six patients were included from 16 centers (24 males, 22 females; median age 10.4 years [range 1.0-69.2 years]; 36 pediatric, 10 adult patients). A variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immune deficiency was reported. The most important clinical presentation prompting the immunological evaluation was 'recurrent ear-nose-throat (ENT) and airway infections'. Immunoglobulin isotype and/or IgG-subclass deficiencies were the most prevalent immunological abnormalities reported.
  
  
  
  Our survey yielded a wide variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immunodeficiency. Although respiratory tract infections can often also be ascribed to other causes (e.g. aspiration or structural abnormalities), we show that a significant proportion of patients also have an antibody deficiency requiring specific treatment (e.g. immunoglobulin replacement, antibiotic prophylaxis). Therefore, it is important to perform immunological investigations in patients with chromosomal aberrations and recurrent ENT or airway infections, to identify potential immunodeficiency that can be specifically treated.
authors.affiliation: Department Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME, 's-Hertogenbosch, The Netherlands.
authors.forename: Ellen
authors.initials: E
authors.lastname: Schatorjé
authors.affiliation: Department of Pediatrics, Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.
authors.forename: Michiel
authors.initials: M
authors.lastname: van der Flier
authors.affiliation: Immunodeficiency Unit, Inflammation Center and Center for Rare Diseases, Children's Hospital, Helsinki University and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Mikko
authors.initials: M
authors.lastname: Seppänen
authors.affiliation: University Hospitals of Leicester NHS Trust, Leicester, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Browning
authors.affiliation: Children's Hospital of Philadelphia, Philadelphia, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Morsheimer
authors.affiliation: Department of Pediatrics, Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Henriet
authors.affiliation: Primary Immunodeficiencies unit Hospital Dona Estefania, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
authors.forename: João Farela
authors.initials: JF
authors.lastname: Neves
authors.affiliation: McGill University Health Centre, Montreal, Canada.
authors.forename: Donald Cuong
authors.initials: DC
authors.lastname: Vinh
authors.affiliation: Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Alsina
authors.affiliation: Faculty of Medicine ABC, São Paulo, Brazil.
authors.forename: Anete
authors.initials: A
authors.lastname: Grumach
authors.affiliation: Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Pere
authors.initials: P
authors.lastname: Soler-Palacin
authors.affiliation: Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Thomas
authors.initials: T
authors.lastname: Boyce
authors.affiliation: Antalya Education and Research Hospital Department of Pediatric Immunology and Allergy, Antalya, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Celmeli
authors.affiliation: Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Ekaterini
authors.initials: E
authors.lastname: Goudouris
authors.affiliation: Epsom & St Helier University Hospitals NHS Trust, Carshalton, UK.
authors.forename: Grant
authors.initials: G
authors.lastname: Hayman
authors.affiliation: NHS Grampian, Aberdeen, Scotland.
authors.forename: Richard
authors.initials: R
authors.lastname: Herriot
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Center for Congenital Immunodeficiencies, Medical University Vienna, Wien, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Förster-Waldl
authors.affiliation: Pediatric Hematology-Oncology, Medical University Graz, Graz, Austria.
authors.forename: Markus
authors.initials: M
authors.lastname: Seidel
authors.affiliation: Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
authors.forename: Annet
authors.initials: A
authors.lastname: Simons
authors.affiliation: Department Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME, 's-Hertogenbosch, The Netherlands. e.d.vries@jbz.nl.|Department Tranzo, Tilburg University, Tilburg, The Netherlands. e.d.vries@jbz.nl.
authors.forename: Esther
authors.initials: E
authors.lastname: de Vries
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017099:IgG Deficiency / Q000175:diagnosis / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Chromosomal aberration; Genetics; Immunology; Mental retardation; Primary immunodeficiency; Recurrent infections