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Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

Publication Date: November 06, 2015
Journal: PLOS ONE
Authors: Monica T. Y. Wong, Annechien J. A. Lambeck, Mirjam Van Der Burg, Sacha La Bastide Van Gemert, et al
Volume: 10
Issue: 11
Pages: e0142350
DOI: https://dx.plos.org/10.1371/journal.pone.0142350
Publisher URL: http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0142350
PubMed: http://www.ncbi.nlm.nih.gov/pubmed/26544072
PubMed Central: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636349
Europe PMC: http://europepmc.org/abstract/MED/26544072
Web of Science: 000364398700117
Scopus: 84952663719
Mendeley: http://www.mendeley.com/research/immune-dysfunction-children-charge-syndrome-crosssectional-study

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CiteULike16 May 18:16 UTC

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Mendeley 1929 Apr 04:14 UTC

Mendeley | Further Information

{"title"=>"Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study", "type"=>"journal", "authors"=>[{"first_name"=>"Monica T. Y.", "last_name"=>"Wong"}, {"first_name"=>"Annechien J. A.", "last_name"=>"Lambeck"}, {"first_name"=>"Mirjam", "last_name"=>"van der Burg"}, {"first_name"=>"Sacha", "last_name"=>"la Bastide-van Gemert"}, {"first_name"=>"Lianne A.", "last_name"=>"Hogendorf"}, {"first_name"=>"Conny M. A.", "last_name"=>"van Ravenswaaij-Arts"}, {"first_name"=>"Elisabeth H.", "last_name"=>"Schölvinck"}], "year"=>2015, "source"=>"PLOS ONE", "identifiers"=>{"pmid"=>"26544072", "doi"=>"10.1371/journal.pone.0142350", "issn"=>"1932-6203"}, "id"=>"b44b4a2f-654c-3e6d-b8bf-b1bb05c68f25", "abstract"=>"CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with CHARGE syndrome have frequent infections that are presumed to be due to anatomical anomalies of the craniofacial region and upper airway, and cranial nerve problems resulting in swallowing difficulties and aspiration. The possible contribution of immunological abnormalities to these infections has not been systematically studied even though immune deficiencies have been described in patients with 22q11.2 deletion syndrome, a condition which shares remarkable clinical overlap with CHARGE syndrome. We assessed the frequency and nature of immune dysfunction in 24 children with genetically proven CHARGE syndrome. All patients, or their parents, completed a questionnaire on infectious history. Their immune system was extensively assessed through full blood counts, immunoglobulin levels, lymphocyte subpopulations, peripheral B- and T-cell differentiation, T-receptor excision circle (TREC) analysis, T-cell function, and vaccination responses. All CHARGE patients had a history of infections (often frequent), mainly otitis media and pneumonia, leading to frequent use of antibiotics and to hospital admissions. Decreased T-cell numbers were found in 12 (50%) patients, presumably caused by insufficient thymic output since TREC amounts were also diminished in CHARGE patients. Despite normal peripheral B-cell differentiation and immunoglobulin production in all patients, 83% of patients had insufficient antibody titers to one or more early childhood vaccinations. Based on our results, we recommend immunological evaluation of CHARGE patients with recurrent infections.", "link"=>"http://www.mendeley.com/research/immune-dysfunction-children-charge-syndrome-crosssectional-study", "reader_count"=>18, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Student > Doctoral Student"=>4, "Researcher"=>2, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Student > Master"=>1, "Student > Bachelor"=>3, "Lecturer"=>1, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Student > Doctoral Student"=>4, "Researcher"=>2, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Student > Master"=>1, "Student > Bachelor"=>3, "Lecturer"=>1, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>2, "Medicine and Dentistry"=>12, "Agricultural and Biological Sciences"=>1, "Immunology and Microbiology"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>12}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>2}, "Unspecified"=>{"Unspecified"=>2}}, "group_count"=>1}

ORCID 102 Feb 15:10 UTC

Scopus | Further Information

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Web of Science®12 Jan 06:31 UTC

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Journal Comments06 Nov 04:11 UTC

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Figshare 2402 Apr 19:50 UTC

Figshare

{"files"=>["https://ndownloader.figshare.com/files/2417158"], "description"=>"1 All patients were vaccinated according to the Dutch or Belgian National Immunization Programmes [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref024\" target=\"_blank\">24</a>,<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref025\" target=\"_blank\">25</a>], with the exception of patient CHD02 who had not been vaccinated. All vaccine titers were obtained without booster or recheck.2 Patients who were not vaccinated for pneumococcal polysaccharides are shown in italic.3 Concentration of antibodies to diphtheria or tetanus in IU/ml. A concentration ≥0.10 IU/ml is considered protective. Insufficient responses (<0.10 IU/ml) are shown in bold.4 Concentration of antibodies to Haemophilus influenzae type b in mg/l. A concentration >1.0 mg/l is considered protective. Insufficient responses (<1.0 mg/l) are shown in bold.5 Concentration of antibodies to pneumococcal polysaccharides in μg/ml. An adequate response to pneumococcal polysaccharides was defined as an absolute level >0.35 μg/ml in >50% of serotypes. Insufficient responses (<0.35 μg/ml) are shown in bold.Hib, Haemophilus influenzae type b; PPS, pneumococcal polysaccharides serotype; U, unknownIgG-specific vaccine-induced antibody responses per CHARGE patient.<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#t005fn001\" target=\"_blank\">1</a>", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597165, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.t005", "stats"=>{"downloads"=>1, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_IgG_specific_vaccine_induced_antibody_responses_per_CHARGE_patient_1_/1597165", "title"=>"IgG-specific vaccine-induced antibody responses per CHARGE patient.1", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417157"], "description"=>"1 Absolute numbers in cells/μl. Age-matched reference values are shown in brackets [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref013\" target=\"_blank\">13</a>,<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref015\" target=\"_blank\">15</a>]. Values below the age-matched reference values are shown in bold.2 Absolute numbers in cells/μl and relative numbers in percentages of naive mature CD4+ or CD8+ T-cells. Age-matched reference values are shown in brackets [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref015\" target=\"_blank\">15</a>]. If both the absolute and the relative numbers are below the age-matched reference values, values are shown in bold.n/a, age-matched reference value not availablePeripheral NK-cells, T-cells and naive T-cells per CHARGE patient.", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597164, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.t004", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Peripheral_NK_cells_T_cells_and_naive_T_cells_per_CHARGE_patient_/1597164", "title"=>"Peripheral NK-cells, T-cells and naive T-cells per CHARGE patient.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417154"], "description"=>"1 Immunoglobulin concentration in g/l, except for IgE (IE/ml). Age-matched reference values are shown in brackets [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref012\" target=\"_blank\">12</a>]. Values below or above the age-matched reference values are shown in bold.Immunoglobulin levels per CHARGE patient.", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597161, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.t002", "stats"=>{"downloads"=>0, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Immunoglobulin_levels_per_CHARGE_patient_/1597161", "title"=>"Immunoglobulin levels per CHARGE patient.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417151"], "description"=>"Numbers of TRECs in patients with CHARGE syndrome (n = 22) compared to healthy controls (n = 12). Error bars indicate means and standard deviations, *p = 0.005.", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597159, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.g002", "stats"=>{"downloads"=>0, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_T_cell_receptor_excision_circle_TREC_analysis_/1597159", "title"=>"T-cell receptor excision circle (TREC) analysis.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417153"], "description"=>"-, none; +, yes; ++, yes, including hospital admission1 Age in years at time of evaluation2 Based on the criteria by Blake et al. [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref002\" target=\"_blank\">2</a>] and/or Verloes [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref003\" target=\"_blank\">3</a>]3 Antibiotics given4 Antibiotics given in addition to prophylactic antibiotics5 Prophylatic antibiotics givenall, allergy; A/T, adenectomy and/or tonsillectomy; del, deletion; ecz, eczema; F, female; fs, frameshift; M, male; mis, missense; n, number; non, nonsense; splice, splice site; tubes, tympanostomy tubes; UAI, upper airway infection, including otitis mediaClinical characteristics of 24 patients with CHARGE syndrome.", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597160, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.t001", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Clinical_characteristics_of_24_patients_with_CHARGE_syndrome_/1597160", "title"=>"Clinical characteristics of 24 patients with CHARGE syndrome.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417150"], "description"=>"IgM and IgG expression on memory B-cells (CD27+IgD-) of a CHARGE patient (B, D) and a simultaneously analyzed healthy control (A, C). A, B) IgG and IgM expression are used to differentiate between class-switched memory B-cells (CD27+IgD-IgM-/CD27+IgD-IgG+) and IgM-only memory B-cells (CD27+IgD-IgG-IgM++). Memory B-cells with high IgM expression and no expression of IgG are considered to be IgM-only memory B-cells (upper-left quadrant), all other memory B-cells are considered to be class-switched memory B-cells. C, D) Part of the CHARGE patients show abnormal expression of IgM on class-switched memory B-cells compared to healthy controls. MFI, mean fluorescence intensity.", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597158, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.g001", "stats"=>{"downloads"=>1, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_IgM_and_IgG_expression_on_memory_B_cells_/1597158", "title"=>"IgM and IgG expression on memory B-cells.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417160", "https://ndownloader.figshare.com/files/2417161", "https://ndownloader.figshare.com/files/2417162", "https://ndownloader.figshare.com/files/2417163", "https://ndownloader.figshare.com/files/2417164", "https://ndownloader.figshare.com/files/2417165"], "description"=>"<div>CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with CHARGE syndrome have frequent infections that are presumed to be due to anatomical anomalies of the craniofacial region and upper airway, and cranial nerve problems resulting in swallowing difficulties and aspiration. The possible contribution of immunological abnormalities to these infections has not been systematically studied even though immune deficiencies have been described in patients with 22q11.2 deletion syndrome, a condition which shares remarkable clinical overlap with CHARGE syndrome. We assessed the frequency and nature of immune dysfunction in 24 children with genetically proven CHARGE syndrome. All patients, or their parents, completed a questionnaire on infectious history. Their immune system was extensively assessed through full blood counts, immunoglobulin levels, lymphocyte subpopulations, peripheral B- and T-cell differentiation, T-receptor excision circle (TREC) analysis, T-cell function, and vaccination responses. All CHARGE patients had a history of infections (often frequent), mainly otitis media and pneumonia, leading to frequent use of antibiotics and to hospital admissions. Decreased T-cell numbers were found in 12 (50%) patients, presumably caused by insufficient thymic output since TREC amounts were also diminished in CHARGE patients. Despite normal peripheral B-cell differentiation and immunoglobulin production in all patients, 83% of patients had insufficient antibody titers to one or more early childhood vaccinations. Based on our results, we recommend immunological evaluation of CHARGE patients with recurrent infections.</div>", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597166, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0142350.s001", "https://dx.doi.org/10.1371/journal.pone.0142350.s002", "https://dx.doi.org/10.1371/journal.pone.0142350.s003", "https://dx.doi.org/10.1371/journal.pone.0142350.s004", "https://dx.doi.org/10.1371/journal.pone.0142350.s005", "https://dx.doi.org/10.1371/journal.pone.0142350.s006"], "stats"=>{"downloads"=>0, "page_views"=>1, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Immune_Dysfunction_in_Children_with_CHARGE_Syndrome_A_Cross_Sectional_Study_/1597166", "title"=>"Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2015-11-06 04:51:09"}
{"files"=>["https://ndownloader.figshare.com/files/2417155"], "description"=>"1 Absolute numbers in cells/μl. Age-matched reference values are shown in brackets [<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref013\" target=\"_blank\">13</a>,<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0142350#pone.0142350.ref014\" target=\"_blank\">14</a>]. Values below the age-matched reference values are shown in bold.2 No age-matched reference values available3 Class-switched memory B-cells, as shown by strong IgG expression, also retaining IgM expression.N, normal (no expression of IgM on class-switched memory B-cells).Peripheral B-cells, memory B-cells and IgM expression on class-switched memory B-cells per CHARGE patient.", "links"=>[], "tags"=>["cranial nerve problems", "trec", "CHARGE patients", "CHARGE syndrome", "infection", "22 q 11.2 Deletion Syndrome"], "article_id"=>1597162, "categories"=>["Uncategorised"], "users"=>["Monica T. Y. Wong", "Annechien J. A. Lambeck", "Mirjam van der Burg", "Sacha la Bastide-van Gemert", "Lianne A. Hogendorf", "Conny M. A. van Ravenswaaij-Arts", "Elisabeth H. Schölvinck"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0142350.t003", "stats"=>{"downloads"=>0, "page_views"=>1, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Peripheral_B_cells_memory_B_cells_and_IgM_expression_on_class_switched_memory_B_cells_per_CHARGE_patient_/1597162", "title"=>"Peripheral B-cells, memory B-cells and IgM expression on class-switched memory B-cells per CHARGE patient.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-11-06 04:51:09"}

PMC Usage Stats 173117 Jan 23:02 UTC

PMC Usage Stats | Further Information

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Relative Metric04 Apr 13:34 UTC

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{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}

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