Impaired immune function in children with Fanconi anaemia

British Journal of Haematology

Volumn 154, Issue 2, 2011, Pages 234-240

  Myers, Kasiani C ^a   Bleesing, Jack J ^a   Davies, Stella M ^a   Zhang, Xue ^a   Martin, Lisa J ^a   Mueller, Robin ^a   Harris, Richard E ^a   Filipovich, Alexandra H ^a   Kovacic, Melinda B ^a   Wells, Susanne I ^a   Mehta, Parinda A ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Bone marrow failure; Children; Fanconi anaemia; Immunology

Indexed keywords

GRANZYME; IMMUNOGLOBULIN G; LYMPHOCYTE ANTIGEN; PERFORIN; PHYTOHEMAGGLUTININ;

ADOLESCENT; ANTIGEN PRESENTATION; ARTICLE; B LYMPHOCYTE; CANDIDA; CELL LEVEL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE PREDISPOSITION; FANCONI ANEMIA; FEMALE; HUMAN; HUMAN CELL; IMMUNE RESPONSE; IMMUNOPATHOLOGY; LYMPHOCYTE COUNT; LYMPHOCYTE FUNCTION; MALE; NATURAL KILLER CELL; NATURAL KILLER CELL MEDIATED CYTOTOXICITY; NORMAL VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CONTENT; SCHOOL CHILD; T LYMPHOCYTE;

ADAPTIVE IMMUNITY; ADOLESCENT; B-LYMPHOCYTE SUBSETS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FANCONI ANEMIA; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; KILLER CELLS, NATURAL; LYMPHOCYTE COUNT; MALE; T-LYMPHOCYTE SUBSETS;

EID: 79959853949     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08721.x     Document Type: Article

References (30)

1. Alter, B.P. (2003) Cancer in Fanconi anemia, 1927-2001. Cancer, 97, 425-440.
2. Auerbach, A.D. & Allen, R.G. (1991) Leukemia and preleukemia in Fanconi anemia patients: a review of the literature and report of the international Fanconi anemia registry. Cancer Genetics and Cytogenetics, 51, 1-12.
3. Bleesing, J.J.H. (2004) Assays for B Cell and Germinal Center Development. Current Protocols in Immunology, 7.35.1-7.35.21.
4. Castello, G., Gallo, C., Napolitano, M. & Ascierto, P.A. (1998) Immunological phenotype analysis of patients with Fanconi's anaemia and their family members. Acta Haematologica, 100, 39-43.
5. Dror, Y. (2005) Shwachman-diamond syndrome. Pediatric Blood & Cancer, 45, 892-901.
6. Egeler, R., Shapiro, R., Loechelt, B. & Filipovich, A. (1996) Characteristic immune abnormalities in hemophagocytic lymphohistiocytosis. Journal of Pediatric Hematology/Oncology, 18, 340-345.
7. Frazer, I.H., Quinn, M., Nicklin, J.L., Tan, J., Perrin, L.C., Ng, P., O'Connor, V.M., White, O., Wendt, N., Martin, J., Crowley, J.M., Edwards, S.J., McKenzie, A.W., Mitchell, S.V., Maher, D.W., Pearse, M.J. & Basser, R.L. (2004) Phase 1 study of HPV16-specific immunotherapy with E6E7 fusion protein and ISCOMATRIX(TM) adjuvant in women with cervical intraepithelial neoplasia. Vaccine, 23, 172-181.
8. Froom, P., Aghai, E., Dobinsky, J.B., Quitt, M. & Lahat, N. (1987) Reduced natural killer activity in patients with Fanconi's anemia and in family members. Leukemia Research, 11, 197-199.
9. Hersey, P., Edwards, A., Lewis, R., Kemp, A. & McInnes, J. (1982) Deficient natural killer cell activity in a patient with Fanconi's anaemia and squamous cell carcinoma. Association with defect in interferon release. Clinical and Experimental Immunology, 48, 205-212.
10. Jyonouchi, S., Forbes, L., Ruchelli, E. & Sullivan, K.E. (2011) Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a single-center pediatric experience. Pediatric Allergy and Immunology, 22, 313-319.
11. Khan, S., Pereira, J., Darbyshire, P.J., Holding, S., Dore, P.C., Sewell, W.A. & Huissoon, A. (2011) Do ribosomopathies explain some cases of common variable immunodeficiency? Clinical and Experimental Immunology, 163, 96-103.
12. Kogawa, K., Lee, S.M., Villanueva, J., Marmer, D., Sumegi, J. & Filipovich, A.H. (2002) Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood, 99, 61-66.
13. Kutler, D.I., Singh, B., Satagopan, J., Batish, S.D., Berwick, M., Giampietro, P.F., Hanenberg, H. & Auerbach, A.D. (2003a) A 20-year perspective on the international Fanconi anemia registry (IFAR). Blood, 101, 1249-1256.
14. Kutler, D.I., Wreesmann, V.B., Goberdhan, A., Ben-Porat, L., Satagopan, J., Ngai, I., Huvos, A.G., Giampietro, P., Levran, O., Pujara, K., Diotti, R., Carlson, D., Huryn, L.A., Auerbach, A.D. & Singh, B. (2003b) Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. Journal of the National Cancer Institute, 95, 1718-1721.
15. Lebbe, C., Pinquier, L., Rybojad, M., Chomienne, C., Ochonisky, S., Miclea, J.M., Gluckman, E. & Morel, P. (1993) Fanconi's anaemia associated with multicentric Bowen's disease and decreased NK cytotoxicity. The British Journal Of Dermatology, 129, 615-618.
16. Liou, T.G., Adler, F.R., Cahill, B.C., FitzSimmons, S.C., Huang, D., Hibbs, J.R. & Marshall, B.C. (2001) Survival effect of lung transplantation among patients with cystic fibrosis. JAMA: The Journal of the American Medical Association, 286, 2683-2689.
17. Masserot, C., Peffault de Latour, R., Rocha, V., Leblanc, T., Rigolet, A., Pascal, F., Janin, A., Soulier, J., Gluckman, E. & Socie, G. (2008) Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer, 113, 3315-3322.
18. Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K., Kogawa, K., Davis, J. & Filipovich, A.H.. (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. Journal of Medical Genetics, 41, 137-144.
19. Monafo, W., Polmar, S.H., Neudorf, S., Mather, A. & Filipovich, A.H. (1992) A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation. Clinical and Experimental Immunology, 90, 390-393.
20. Petridou, M. & Barrett, A. (1990) Physical and laboratory characteristics of heterozygote carriers of the Fanconi aplasia gene. Acta Paediatrica Scandinavica, 79, 1069-1074.
21. Ressing, M., Van Driel, W.J., Brandt, R.M., Kenter, G.G., De Jong, J.H., Bauknecht, T., Fleuren, G.J., Hoogerhout, P., Offringa, R., Sette, A., Celis, E., Grey, H., Trimbos, B.J., Kast, W.M. & Melief, C.J. (2000) Detection of T helper responses, but not of human papillomavirus-specific cytotoxic T lymphocyte responses, after peptide vaccination of patients with cervical carcinoma. Journal of Immunotherapy, 23, 255-266.
22. Rosselli, F., Sanceau, J., Gluckman, E., Wietzerbin, J. & Moustacchi, E. (1994) Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood, 83, 1216-1225.
23. Roxo, Jr, P., Arruda, L.K., Nagao, A.T., Carneiro-Sampaio, M.M. & Ferriani, V.P. (2001) Allergic and immunologic parameters in patients with Fanconi's anemia. International Archives Of Allergy And Immunology, 125, 349-355.
24. Sarwar, U. & Hamadeh, R. (2009) Presence of hypogammaglobulinemia in a patient with Fanconi anemia: a case report. Journal of Investigational Allergology and Clinical Immunology, 19, 335-336.
25. Schultz, J. & Shahidi, N. (1993) Tumor necrosis factor-alpha overproduction in Fanconi's anemia. American Journal of Hematology, 42, 196-201.
26. Suzergoz, F., Gurol, A.O., Evcimik, F.M. & Yalman, N. (2008) Lymphoproliferative response of Fanconi anemia patients to mitogens, bacterial and viral antigens in vitro. Harran Üniversitesi Ti{dotless}p Fakültesi Dergisi, 5, 19-23.
27. Taniguchi, T. & D'Andrea, A.D. (2006) Molecular pathogenesis of Fancolni anemia: recent progress. Blood, 107, 4223-4233.
28. Wang, W. (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nature Reviews Genetics, 8, 735-748.
29. Whiteside, T., Miescher, S., MacDonald, H.R. & Von Fliedner, V. (1986) Separation of tumor-infiltrating lymphocytes from tumor cells in human solid tumors. A comparison between velocity sedimentation and discontinuous density gradients. Journal of Immunological Methods, 90, 221-233.
30. van Zeeburg, H., Snijders, P.J., Wu, T., Gluckman, E., Soulier, J., Surralles, J., Castella, M., van der Wal, J.E., Wennerberg, J., Califano, J., Velleuer, E, Dietrich, R., Ebell, W., Bloemena, E., Joenje, H., Leemans, C.R. & Brakenhoff, R.H. (2008) Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients. Journal of the National Cancer Institute, 100, 1649-1653.