Immunodeficiency in CHARGE syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 175, Issue 4, 2017, Pages 516-523

  Mehr, Sam ^a,b   Hsu, Peter ^b   Campbell, Dianne ^b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

CHARGE syndrome; complete Di George; immunodeficiency

Indexed keywords

IMMUNOGLOBULIN G;

B LYMPHOCYTE; CD3+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHROMOSOME DELETION 22Q11; DIGEORGE SYNDROME; DISEASE ASSOCIATION; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNE DEFICIENCY; LYMPHOCYTOPENIA; PRIORITY JOURNAL; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; SYNDROME CHARGE; T LYMPHOCYTE; THYMUS APLASIA; ANIMAL; CYTOLOGY; GENETIC ASSOCIATION STUDY; GENETICS; IMMUNE SYSTEM; IMMUNOLOGY; METABOLISM; PHENOTYPE;

ANIMALS; CHARGE SYNDROME; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNE SYSTEM; IMMUNOLOGIC DEFICIENCY SYNDROMES; PHENOTYPE;

EID: 85034575401     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31594     Document Type: Review

References (34)

1. Assing, K., Nielsen, C., Kirchhoff, M., Madsen, H. O., Ryder, L. P., & Fisker, N. (2013). CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): A case. Human Immunology, 74(9), 1047–1050.
2. Bahillo, P., Cantero, T., Solis, P., Aragon, P., Gomez, S., & Cambronero, R. (2003). Hyper-IgM syndrome with CHARGE association. Pediatric Allergy and Immunology, 14(6), 487–489.
3. Bergman, J. E., Janssen, N., Hoefsloot, L. H., Jongmans, M. C., Hofstra, R. M., & van Ravenswaaij-Arts, C. M. (2011). CHD7 mutations and CHARGE syndrome: The clinical implications of an expanding phenotype. Journal of Medical Genetics, 48(5), 334–342.
4. Blake, K. D., Davenport, S. L., Hall, B. D., Hefner, M. A., Pagon, R. A., & Graham, J. M. Jr. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics (Phila), 37(3), 159–173.
5. Boudny, P., Kurrer, M. O., Stamm, B., & Laeng, R. H. (2000). Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association. Pathology Research and Practice, 196(8), 577–582.
6. Chopra, C., Baretto, R., Duddridge, M., & Browning, M. J. (2009). T-cell immunodeficiency in CHARGE syndrome. Acta Paediatrica, 98(2), 408–410.
7. Comans-Bitter, W. M., de Groot, R., van den Beemd, R., Neijens, H. J., Hop, W. C., Groeneveld, K., … van Dongen, J. J. (1997). Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. Journal of Pediatrics, 130(3), 388–393.
8. de Lonlay-Debeney, P., Cormier-Daire, V., Amiel, J., Abadie, V., Odent, S., Paupe, A.,… Lyonnet, S. (1997). Features of DiGeorge syndrome and CHARGE association in five patients. Journal of Medical Genetics, 34(12), 986–989.
9. Gennery, A. R. (2012). Immunological aspects of 22q11.2 deletion syndrome. Cellular and Molecular Life Sciences, 69(1), 17–27.
10. Gennery, A. R., Barge, D., O'Sullivan, J. J., Flood, T. J., Abinun, M., & Cant, A. J. (2002). Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Archives of Disease in Childhood, 86(6), 422–425.
11. Gennery, A. R., Slatter, M. A., Rice, J., Hoefsloot, L. H., Barge, D., McLean-Tooke, A., … Johnson, D. (2008). Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndromes. Clinical & Experimental Immunology, 153(1), 75–80.
12. Hoover-Fong, J., Savage, W. J., Lisi, E., Winkelstein, J., Thomas, G. H., Hoefsloot, L. H., … Loeb, D. M. (2009). Congenital T cell deficiency in a patient with CHARGE syndrome. Journal of Pediatrics, 154(1), 140–142.
13. Hsu, P., Ma, A., Barnes, E. H., Wilson, M., Hoefsloot, L. H., Rinne, T., … Mehr, S. (2016). The immune phenotype of patients with CHARGE syndrome. The Journal of Allergy and Clinical Immunolology: In Practice, 4(1), 96–103.
14. Inoue, H., Takada, H., Kusuda, T., Goto, T., Ochiai, M., Kinjo, T., … Hara, T. (2010). Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. European Journal of Pediatrics, 169(7), 839–844.
15. Janda, A., Sedlacek, P., Mejstrikova, E., Zdrahalova, K., Hrusak, O., Kalina, T., … Stary, J. (2007). Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatric Transplantation, 11(4), 441–447.
16. Janssen, N., Bergman, J. E., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoot, S. J., … Hoefsloot, L. H. (2012). Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutatation, 33(8), 1149–1160.
17. Jawad, A. F., McDonald-Mcginn, D. M., Zackai, E., & Sullivan, K. E. (2001). Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Journal of Pediatrics, 139(5), 715–723.
18. Jyonouchi, S., McDonald-McGinn, D. M., Bale, S., Zackai, E. H., & Sullivan, K. E. (2009). 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, 123(5), e871–e877.
19. Kaliakatsos, M., Giannakopoulos, A., Fryssira, H., Kanariou, M., Skiathitou, A. V., Siahanidou, T., … Tzetis, M. (2010). Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: Clinical presentation and molecular investigation by array-CGH. Journal of Human Genetics, 55(11), 761–763.
20. Kim, H. Y., Kim, Y. M., & Park, H. J. (2017). Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. Pediatric Pulmonology, 52(2), E4–E6.
21. Markert, M. L., Devlin, B. H., Alexieff, M. J., Li, J., McCarthy, E. A., Gupton, S., … Hoehner, J. C. (2007). Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44 consecutive transplants. Blood, 109(10), 4539–4547.
22. Martire, B., Panza, R., Pillon, M., & Delvecchio, M. (2016). CHARGE syndrome and common variable immunodeficiency: A case report and review of literature. Pediatric Allergy and Immunology, 27(5), 546–550.
23. McDonald-McGinn, D. M., & Sullivan, K. E. (2011). Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore), 90(1), 1–18.
24. Pagon, R. A., Graham, J. M., Jr., Zonana, J., & Yong, S. L. (1981). Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. Journal of Pediatrics, 99(2), 223–227.
25. Patel, K., Akhter, J., Kobrynski, L., Benjamin Gathmann, M. A., Davis, O., & Sullivan, K. (2012). Immunoglobulin deficiencies: The B-lymphocyte side of DiGeorge syndrome. Journal of Pediatrics, 161(5), 950–953.
26. Randall, V., McCue, K., Roberts, C., Kyriakopoulou, V., Beddow, S., Barrett, A. N., … Scambler, P. (2009). Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. The Journal of Clinical Investigation, 119(11), 3301–3310.
27. Sanka, M., Tangsinmankong, N., Loscalzo, M., Sleasman, J. W., & Dorsey, M. J. (2007). Complete DiGeorge syndrome associated with CHD7 mutation. Journal of Allergy and Clinical Immunology, 120(4), 952–954.
28. Theodoropoulos, D. S. (2003). Immune deficiency in CHARGE association. Clinical Medicine & Research, 1(1), 43–48.
29. Urbonas, V., Sadauskaite, J., Cerkauskiene, R., Kaminskas, A., Maki, M., & Kurppa, K. (2016). Population-Based screening for selective immunoglobulin a (IgA) deficiency in lithuanian children using a rapid antibody-Based fingertip test. Medical Science Monitor, 22, 4773–4778.
30. Verloes, A. (2005). Updated diagnostic criteria for CHARGE syndrome: A proposal. American Journal of Medical Genetics Part A, 133A(3), 306–308.
31. Wong, M. T., Lambeck, A. J., van der Burg, M., la Bastide-van Gemert, S., Hogendorf, L. A., van Ravenswaaij-Art, C. M., … Scholvinck, E. H. (2015). Immune dysfunction in children with CHARGE syndrome: A cross-Sectional study. PLoS ONE, 10(11), e0142350.
32. Wong, M. T., Scholvinck, E. H., Lambeck, A. J., & van Ravenswaaij-Arts, C. M. (2015). CHARGE syndrome: A review of the immunological aspects. European Journal of Human Genetics, 23(11), 1451–1459.
33. Wood, D. J., David, T. J., Chrystie, I. L., & Totterdell, B. (1988). Chronic enteric virus infection in two T-cell immunodeficient children. Journal of Medical Virology, 24(4), 435–444.
34. Writzl, K., Cale, C. M., Pierce, C. M., Wilson, L. C., & Hennekam, R. C. (2007). Immunological abnormalities in CHARGE syndrome. European Journal of Medical Genetics, 50(5), 338–345.