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Ellen Schatorjé1, Michiel van der Flier2, Mikko Seppänen3, Michael Browning4, Megan Morsheimer5, Stefanie Henriet2, João Farela Neves6, Donald Cuong Vinh7, Laia Alsina8, Anete Grumach9, Pere Soler-Palacin10, Thomas Boyce11, Fatih Celmeli12, Ekaterini Goudouris13, Grant Hayman14, Richard Herriot15, Elisabeth Förster-Waldl16, Markus Seidel17, Annet Simons18 and Esther de Vries1,19*

1 - Department Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME‘s-Hertogenbosch, The Netherlands.
2 - Department of Pediatrics, Amalia Children’s Hospital and Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.
3 - Immunodeficiency Unit, Inflammation Center and Center for Rare Diseases, Children’s Hospital, Helsinki University and Helsinki University Hospital, Helsinki, Finland.
4 - University Hospitals of Leicester NHS Trust, Leicester, UK.
5 - Children’s Hospital of Philadelphia, Philadelphia, USA.
6 - Primary Immunodeficiencies unit Hospital Dona Estefania, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
7 - McGill University Health Centre, Montreal, Canada.
8 - Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona, Spain.
9 - Faculty of Medicine ABC, São Paulo, Brazil.
10 - Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Barcelona, Spain.
11 - Mayo Clinic, Rochester, Minnesota, USA.
12 - Antalya Education and Research Hospital Department of Pediatric Immunology and Allergy, Antalya, Turkey.
13 - Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
14 - Epsom & St Helier University Hospitals NHS Trust, Carshalton, UK.
15 - NHS Grampian, Aberdeen, Scotland.
16 - Department of Pediatrics and Adolescent Medicine, Center for Congenital Immunodeficiencies, Medical University Vienna, Wien, Austria.
17 - Pediatric Hematology-Oncology, Medical University Graz, Graz, Austria.
18 - Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
19 - Department Tranzo, Tilburg University, Tilburg,

Orphanet Journal of Rare Diseases (2016) 11:110

Background :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. 
Methods: 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.
Results: 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. Conclusions: 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.

Keywords: Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections