Primary immunodeficiency associated with chromosomal aberration - an ESID survey

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

doi:10.1186/s13023-016-0492-1

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

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

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	11:110
Journal	Orphanet Journal of Rare Diseases
Volume	11
DOIs	https://doi.org/10.1186/s13023-016-0492-1
Publication status	Published - 2 Aug 2016

Keywords

Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections

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Schatorjé, E., 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, Article 11:110. https://doi.org/10.1186/s13023-016-0492-1

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title = "Primary immunodeficiency associated with chromosomal aberration - an ESID survey",

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",

author = "Ellen Schatorj{\'e} and {van der Flier}, Michiel and Mikko Sepp{\"a}nen and Michael Browning and Megan Morsheimer and Stefanie Henriet and Neves, {Jo{\~a}o Farela} and Vinh, {Donald Cuong} and Laia Alsina and Anete Grumach and Pere Soler-Palacin and Thomas Boyce and Fatih Celmeli and Ekaterini Goudouris and Grant Hayman and Richard Herriot and Elisabeth F{\"o}rster-Waldl and Markus Seidel and Annet Simons and {de Vries}, Esther",

year = "2016",

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doi = "10.1186/s13023-016-0492-1",

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Schatorjé, E, van der Flier, M, Seppänen, M, Browning, M, Morsheimer, M, Henriet, S, Neves, JF, Vinh, DC, 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, vol. 11, 11:110. https://doi.org/10.1186/s13023-016-0492-1

TY - JOUR

T1 - Primary immunodeficiency associated with chromosomal aberration - an ESID survey

AU - Schatorjé, Ellen

AU - van der Flier, Michiel

AU - Seppänen, Mikko

AU - Browning, Michael

AU - Morsheimer, Megan

AU - Henriet, Stefanie

AU - Neves, João Farela

AU - Vinh, Donald Cuong

AU - Alsina, Laia

AU - Grumach, Anete

AU - Soler-Palacin, Pere

AU - Boyce, Thomas

AU - Celmeli, Fatih

AU - Goudouris, Ekaterini

AU - Hayman, Grant

AU - Herriot, Richard

AU - Förster-Waldl, Elisabeth

AU - Seidel, Markus

AU - Simons, Annet

AU - de Vries, Esther

PY - 2016/8/2

Y1 - 2016/8/2

N2 - 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.

AB - 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.

KW - Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections

U2 - 10.1186/s13023-016-0492-1

DO - 10.1186/s13023-016-0492-1

M3 - Article

C2 - 27484815

SN - 1750-1172

VL - 11

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

M1 - 11:110

ER -

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

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