Primary immunodeficiency associated with chromosomal aberration - an ESID survey

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Schatorje , E , van der Flier , M , Seppanen , M , Browning , M , Morsheimer , M , Henriet , S , Neves , J F , Vinh , D C , Alsina , L , Grumach , A , Soler-Palacin , P , Boyce , T , Celmeli , F , Goudouris , E , Hayman , G , Herriot , R , Forster-Waldl , E , Seidel , M , Simons , A & de Vries , E 2016 , ' Primary immunodeficiency associated with chromosomal aberration - an ESID survey ' , Orphanet journal of rare diseases , vol. 11 , 110 . https://doi.org/10.1186/s13023-016-0492-1

Title: Primary immunodeficiency associated with chromosomal aberration - an ESID survey
Author: Schatorje, Ellen; van der Flier, Michiel; Seppanen, Mikko; Browning, Michael; Morsheimer, Megan; Henriet, Stefanie; Neves, Joao Farela; Vinh, Donald Cuong; Alsina, Laia; Grumach, Anete; Soler-Palacin, Pere; Boyce, Thomas; Celmeli, Fatih; Goudouris, Ekaterini; Hayman, Grant; Herriot, Richard; Forster-Waldl, Elisabeth; Seidel, Markus; Simons, Annet; de Vries, Esther
Contributor: University of Helsinki, Clinicum
Date: 2016-08-02
Language: eng
Number of pages: 14
Belongs to series: Orphanet journal of rare diseases
ISSN: 1750-1172
URI: http://hdl.handle.net/10138/166950
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.
Subject: Genetics
Immunology
Chromosomal aberration
Primary immunodeficiency
Mental retardation
Recurrent infections
COMMON VARIABLE IMMUNODEFICIENCY
DELETION SYNDROME
IGA DEFICIENCY
ANTIBODY DEFICIENCY
RING CHROMOSOME-18
JACOBSEN-SYNDROME
REFERENCE VALUES
TRISOMY 10P
PATIENT
CHILDREN
3111 Biomedicine
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