Fatal lymphoproliferative disorder in a child with schimke immuno-osseous dysplasia

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 194-199

  Taha, Doris ^a   Boerkoel, Cornelius F ^b   Williamson Balfe, John ^a   Khalifah, Mohammed ^a   Sloan, Emily A ^b   Barbar, Maha ^a   Haider, Abdulrazzaq ^a   Kanaan, Hassan ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

B cell lymphoma; Fever of unknown origin; Lymphoproliferative disorder; Spondyloepiphyseal dysplasia; T cell mediated immunodeficiency

Indexed keywords

AMPHOTERICIN B; ANTINEOPLASTIC AGENT; CEFTAZIDIME; COTRIMOXAZOLE; GRANULOCYTE COLONY STIMULATING FACTOR; STEROID; VANCOMYCIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B CELL LYMPHOMA; CASE REPORT; CLINICAL FEATURE; FATALITY; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; LYMPHOPROLIFERATIVE DISEASE; MALE; NEPHROTIC SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PYREXIA IDIOPATHICA; SCHIMKE IMMUNOOSSEOUS DYSPLASPIA; SMARCAL1 GENE; SPONDYLOEPIPHYSEAL DYSPLASIA; T LYMPHOCYTE;

BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; FATAL OUTCOME; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOMA, B-CELL; MALE;

EID: 9644278312     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30356     Document Type: Article

References (22)

1. Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Frund S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormala T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. 2000. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 159:1-7.
2. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. 2002. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 30:215-220.
3. Canioni D, Jabado N, Maclntyre E, Patey N, Emile JF, Brousse N. 2001. Lymphoproliferative disorders in children with primary immunodeficiencies: Immunological status may be more predictive of the outcome than other criteria. Histopathology 38(2):146-159.
4. Ehrich JH, Burchert W, Schrig E, Krull F, Offner G, Hoyer PF, Brodehl J. 1995. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 43(2):89-95.
5. Elenitoba-Johnson KS, Jaffe ES. 1997. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol 14: 35-47.
6. Ganne V, Siddiqi N, Kamaplath B, Chang CC, Cohen EP, Bresnahan BA, Hariharan S. 2003. Humanized anti-CD20 monoclonal antibody (Rituximab) treatment for post-transplant lymphoproliferative disorder. Clin Transplant 17(5):417-422.
7. Gilmour KC, Caspar HB. 2003. Pathogenesis and diagnosis of X-linked lymphoproliferative disease. Expert Rev Mol Diagn 3(5):549-561.
8. Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M. 1994. Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 49:266-269.
9. Knowles DM. 1999. Immunodeficiency-associated lymphoproliferative disorders. Mod Pathol 12:200-217.
10. Lama G, Marrone N, Majorana M, Cirillo F, Salsano ME, Rinaldi MM. 1995. Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings. Pediatr Nephrol 9:19-23.
11. LeVasseur R, Ganjoo J, Green M, Janosky J, Reyes J, Mazariegos G, Sindhi R. 2003. Lymphocyte subsets may discern treatment effects in children and young adults with post-transplant lymphoproliferative disorder. Pediatr Transplant 7(5):370-375.
12. Ludman MD, Cole DEC, Crocker JF, Cohen MM Jr. 1993. Schimke immuno-osseous dysplasia: Case report and review. Am J Med Genet 47:793-796.
13. Nakanishi M, Kikuta H, Tomizawa K, Kojima K, Ishizaka A, Okano M, Sakiyama Y, Matsumoto S. 1993. Distinct clonotypic Epstein-Barr virus-induced fatal lymphoproliferative disorder in a patient with Wiskott-Aldrich syndrome. Cancer 72:1376-1381.
14. Oertel SH, Riess H. 2002. Immunosurveillance, immunodeficiency, and lymphoproliferations. Recent Results Cancer Res 159:1-8.
15. Okano M, Gross TG. 2000. A review of Epstein-Barr virus infection in patients with immunodeficiency disorders. Am J Med Sci 319(6):392-396.
16. Okano M, Nakanishi M, Taguchi Y, Sakiyama Y, Matsumoto S. 1992. Primary immunodeficiency diseases and Epstein-Barr virus-induced lymphoproliferative disorders. Acta Paediatr Jpn 34:385-392.
17. Petty EM, Yanik GA, Hutchinson RJ, Alter BP, Schmalstieg FC, Levine JE, Ginsburg D, Robillard JE, Castle VP. 2000. Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia. J Pediatr 137:882-886.
18. Pinkerton CR, Hann I, Weston CL, Mapp T, Wotherspoon A, Hobson R, Kelly DA, Vergani D, Hadzic D, Rees L, Burke M, Alero Thomas J. 2002. Immunodeficiency-related lymphoproliferative disorders: Prospective data from the United Kingdom Children's Cancer Study Group Registry. Br J Haematol 118:456-461.
19. Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, da Fonseca N. 1999. Schimke immuno-osseous dysplasia: Case report and review of 25 patients. J Med Genet 36:786-789.
20. Schimke RN, Horton WA, King CR. 1971. Chondroitin-6-sulfaturia, defective cellular immunity, and nephrotic syndrome. Lancet 2:1088-1089.
21. Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. 1991. Schimke immuno-osseous dysplasia: A newly recognized multisystem disease. J Pediatr 119:64-72.
22. WHO Scientific Group. 1995. Primary immunodeficiency diseases. Clin Exp Immunol 99(Suppl I):1-24.