Primary immunodeficiency associated with chromosomal aberration – an ESID survey
Posted on 2016-08-02 - 05:00
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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Schatorjé, Ellen; van der Flier, Michiel; Seppänen, Mikko; Browning, Michael; Morsheimer, Megan; Henriet, Stefanie; et al. (2016). Primary immunodeficiency associated with chromosomal aberration – an ESID survey. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.3631199.v1
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AUTHORS (20)
ES
Ellen Schatorjé
Mv
Michiel van der Flier
MS
Mikko Seppänen
MB
Michael Browning
MM
Megan Morsheimer
SH
Stefanie Henriet
JN
João Neves
DV
Donald Vinh
LA
Laia Alsina
AG
Anete Grumach
PS
Pere Soler-Palacin
TB
Thomas Boyce
FC
Fatih Celmeli
EG
Ekaterini Goudouris
GH
Grant Hayman
RH
Richard Herriot
EF
Elisabeth Förster-Waldl
MS
Markus Seidel
AS
Annet Simons
EV
Esther Vries