Immune dysfunction in children with CHARGE syndrome: A cross-sectional study

PLoS ONE

Volumn 10, Issue 11, 2015, Pages

  Wong, Monica T Y ^a   Lambeck, Annechien J A ^a   Van Der Burg, Mirjam ^b   La Bastide Van Gemert, Sacha ^a   Hogendorf, Lianne A ^a   Van Ravenswaaij Arts, Conny M A ^a   Schölvinck, Elisabeth H ^c  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN;

ADOLESCENT; ARTICLE; B LYMPHOCYTE; BLOOD CELL COUNT; CELLULAR IMMUNITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; FEMALE; HOSPITAL ADMISSION; HUMAN; HUMORAL IMMUNITY; IMMUNE SYSTEM; IMMUNOGLOBULIN PRODUCTION; IMMUNOPATHOLOGY; LYMPHOCYTE DIFFERENTIATION; LYMPHOCYTE FUNCTION; LYMPHOCYTE SUBPOPULATION; MALE; OTITIS MEDIA; PARENT; PNEUMONIA; QUESTIONNAIRE; SYNDROME CHARGE; T LYMPHOCYTE; VACCINATION; BLOOD; CHARGE SYNDROME; IMMUNOLOGY; INFANT; PRESCHOOL CHILD;

ADOLESCENT; BLOOD CELL COUNT; CHARGE SYNDROME; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; IMMUNITY, CELLULAR; IMMUNITY, HUMORAL; INFANT; MALE; VACCINATION;

EID: 84952663719     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0142350     Document Type: Article

References (37)

1. Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012; 33: 1149-1160. doi: 10.1002/humu.22086 PMID: 22461308
2. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998; 37: 159-173.
3. Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005; 133: 306-308.
4. Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, et al. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat. 2012; 33: 1251-1260. doi: 10.1002/humu.22106 PMID: 22539353
5. Pagon RA, Graham JM Jr., Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981; 99: 223-227. PMID: 6166737
6. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006; 43: 306-314. PMID: 16155193
7. Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011; 48: 334-342. doi: 10.1136/jmg.2010.087106 PMID: 21378379
8. Jyonouchi S, McDonald-Mcginn DM, Bale S, Zackai EH, Sullivan KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009; 123: e871-e877. doi: 10.1542/peds.2008-3400 PMID: 19403480
9. Wong MT, Scholvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM. CHARGE syndrome: a review of the immunological aspects. Eur J Hum Genet. 2015.
10. de Vries E, Clinical Working Party of the European Society for Immunodeficiencies (ESID). Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol. 2006; 145: 204-214. PMID: 16879238
11. de Vries E, European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012; 167: 108-119. doi: 10.1111/j.1365-2249.2011.04461.x PMID: 22132890
12. Jolliff CR, Cost KM, Stivrins PC, Grossman PP, Nolte CR, Franco SM, et al. Reference intervals for serum IgG, IgA, IgM, C3, and C4 as determined by rate nephelometry. Clin Chem. 1982; 28: 126-128. PMID: 7055895
13. Comans-Bitter WM, de Groot R, van den Beemd R, Neijens HJ, Hop WC, Groeneveld K, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr. 1997; 130: 388-393. PMID: 9063413
14. Driessen GJ, van Zelm MC, van Hagen PM, Hartwig NG, Trip M, Warris A, et al. B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency. Blood. 2011; 118: 6814-6823. doi: 10.1182/blood-2011-06-361881 PMID: 22042693
15. Saule P, Trauet J, Dutriez V, Lekeux V, Dessaint JP, Labalette M. Accumulation of memory T cells from childhood to old age: central and effector memory cells in CD4(+) versus effector memory and terminally differentiated memory cells in CD8(+) compartment. Mech Ageing Dev. 2006; 127: 274-281. PMID: 16352331
16. Stam J, AbdulahadW, Huitema MG, Roozendaal C, Limburg PC, van Stuijvenberg M, et al. Fluorescent cell barcoding as a tool to assess the age-related development of intracellular cytokine production in small amounts of blood from infants. PLoS One. 2011; 6: e25690. doi: 10.1371/journal.pone.0025690 PMID: 22043291
17. van Gageldonk PG, van Schaijk FG, van der Klis FR, Berbers GA. Development and validation of a multiplex immunoassay for the simultaneous determination of serum antibodies to Bordetella pertussis, diphtheria and tetanus. J Immunol Methods. 2008; 335: 79-89. doi: 10.1016/j.jim.2008.02.018 PMID: 18407287
18. van Gageldonk PG, von Hunolstein C, van der Klis FR, Berbers GA. Improved specificity of a multiplex immunoassay for quantitation of anti-diphtheria toxin antibodies with the use of diphtheria toxoid. Clin Vaccine Immunol. 2011; 18: 1183-1186. doi: 10.1128/CVI.05081-11 PMID: 21613460
19. Elberse KE, Tcherniaeva I, Berbers GA, Schouls LM. Optimization and application of a multiplex beadbased assay to quantify serotype-specific IgG against Streptococcus pneumoniae polysaccharides: response to the booster vaccine after immunization with the pneumococcal 7-valent conjugate vaccine. Clin Vaccine Immunol. 2010; 17: 674-682. doi: 10.1128/CVI.00408-09 PMID: 20130129
20. Spijkerman J, Veenhoven RH, Wijmenga-Monsuur AJ, Elberse KE, van Gageldonk PG, Knol MJ, et al. Immunogenicity of 13-valent pneumococcal conjugate vaccine administered according to 4 different primary immunization schedules in infants: a randomized clinical trial. JAMA. 2013; 310: 930-937. doi: 10.1001/jama.2013.228052 PMID: 24002279
21. van Zelm MC, van der Burg M, Langerak AW, van Dongen JJ. PID comes full circle: applications of V (D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front Immunol. 2011; 2: 12. doi: 10.3389/fimmu.2011.00012 PMID: 22566803
22. Hazenberg MD, Verschuren MC, Hamann D, Miedema F, van Dongen JJ. T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation. J Mol Med (Berl). 2001; 79: 631-640.
23. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005; 115: 391-398. PMID: 15696101
24. [Anonymous]. National Immunisation Programme-National Institute for Public Health and the Environment. Available: http://www.rivm.nl/en/Topics/N/National-Immunisation-Programme.
25. [Anonymous]. Vaccination | Agentschap Zorg en Gezondheid. Available: http://www.zorg-engezondheid.be/Diseases/Vaccination/.
26. Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006; 43: 211-217. PMID: 16169932
27. Hollander G, Gill J, Zuklys S, Iwanami N, Liu C, Takahama Y. Cellular and molecular events during early thymus development. Immunol Rev. 2006; 209: 28-46. PMID: 16448532
28. Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, et al. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest. 2009; 119: 3301-3310. doi: 10.1172/JCI37561 PMID: 19855134
29. McLean-Tooke A, Barge D, Spickett GP, Gennery AR. Flow cytometric analysis of TCR Vbeta repertoire in patients with 22q11.2 deletion syndrome. Scand J Immunol. 2011; 73: 577-585. doi: 10.1111/j.1365-3083.2011.02527.x PMID: 21323691
30. Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, et al. Early defects in human Tcell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Blood. 2009; 114: 105-108. doi: 10.1182/blood-2009-03-211029 PMID: 19414857
31. Patel K, Akhter J, Kobrynski L, Benjamin Gathmann MA, Davis O, Sullivan KE, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. J Pediatr. 2012; 161: 950-953. doi: 10.1016/j.jpeds.2012.06.018 PMID: 22809661
32. Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010; 136: 409-418. doi: 10.1016/j.clim.2010.04.011 PMID: 20472505
33. Chopra C, Baretto R, Duddridge M, Browning MJ. T-Cell Immunodeficiency in CHARGE syndrome. Acta Paediatr. 2009; 98: 408-412. doi: 10.1111/j.1651-2227.2008.01077.x PMID: 18976358
34. Theodoropoulos DS. Immune deficiency in CHARGE association. Clin Med Res. 2003; 1: 43-48. PMID: 15931284
35. de Melker HE, Berbers GA, Nagelkerke NJ, Conyn-van Spaendonck MA. Diphtheria antitoxin levels in the Netherlands: a population-based study. Emerg Infect Dis. 1999; 5: 694-700. PMID: 10511526
36. de Melker HE, van den Hof S, Berbers GA, Conyn-van Spaendonck MA. Evaluation of the national immunisation programme in the Netherlands: immunity to diphtheria, tetanus, poliomyelitis, measles, mumps, rubella and Haemophilus influenzae type b. Vaccine. 2003; 21: 716-720. PMID: 12531347
37. van Dongen TM, Venekamp RP, Wensing AM, Bogaert D, Sanders EA, Schilder AG. Acute otorrhea in children with tympanostomy tubes: prevalence of bacteria and viruses in the post-pneumococcal conjugate vaccine era. Pediatr Infect Dis J. 2015; 34: 355-360. doi: 10.1097/INF.0000000000000595 PMID: 25764097