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Title: Primary immunodeficiency associated with chromosomal aberration - an ESID survey
Authors: Schatorjé, Ellen
Seppänen, Mikko
Browning, Michael
Morsheimer, Megan
Henriet, Stefanie
Neves, João Farela
Vinh, Donald Cuong
Alsina, Laia
Grumach, Anete
Soler-Palacin, Pere
Boyce, Thomas
Celmeli, Fatih
Goudouris, Ekaterini
Hayman, Grant
Herriot, Richard
Förster-Waldl, Elisabeth
Seidel, Markus
Simons, Annet
de Vries, Esther
First Published: 2-Aug-2016
Publisher: BioMed Central
Citation: Orphanet Journal of Rare Diseases, 2016, 11:110
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.
DOI Link: 10.1186/s13023-016-0492-1
ISSN: 1750-1172
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © Author(s) 2016. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Appears in Collections:Published Articles, Dept. of Infection, Immunity and Inflammation

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