Primary immunodeficiency associated with chromosomal aberration: An ESID survey

E.J.H. Schatorjé, M. Van Der Flier, M. Seppänen, M. Browning, M. Morsheimer, S. Henriet, J.F. Neves, D.C. Vinh, L. Alsina, A. Grumach, P. Soler-Palacin, T. Boyce, F. Celmeli, E. Goudouris, G. Hayman, R. Herriot, E. Förster-Waldl, M. Seidel, A. Simons, E. De Vries

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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.
Keywords
Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections
Original languageEnglish
Article number110
JournalOrphanet Journal of Rare Diseases
Volume11
Issue number1
DOIs
Publication statusPublished - 1 Dec 2016

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  • Cite this

    Schatorjé, E. J. H., Van Der Flier, M., Seppänen, 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., Förster-Waldl, E., Seidel, M., Simons, A., & De Vries, E. (2016). Primary immunodeficiency associated with chromosomal aberration: An ESID survey. Orphanet Journal of Rare Diseases, 11(1), [110]. https://doi.org/10.1186/s13023-016-0492-1