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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Research

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Authors: Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot, Elisabeth Förster-Waldl, Markus Seidel, Annet Simons, Esther de Vries

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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Abstract

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.
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Metadata
Title
Primary immunodeficiency associated with chromosomal aberration – an ESID survey
Authors
Ellen Schatorjé
Michiel van der Flier
Mikko Seppänen
Michael Browning
Megan Morsheimer
Stefanie Henriet
João Farela Neves
Donald Cuong Vinh
Laia Alsina
Anete Grumach
Pere Soler-Palacin
Thomas Boyce
Fatih Celmeli
Ekaterini Goudouris
Grant Hayman
Richard Herriot
Elisabeth Förster-Waldl
Markus Seidel
Annet Simons
Esther de Vries
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0492-1

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