Analysis of clinical presentations of Bruton disease: A review of 20 years of accumulated data from pediatric patients at Severance Hospital

Yonsei Medical Journal

Volumn 49, Issue 1, 2008, Pages 28-36

  Chun, Jin Kyong ^a   Lee, Taek Jin ^a   Song, Jae Woo ^a   Linton, John A ^a   Kim, Dong Soo ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

Agammaglobulinemia; Bruton's tyrosine kinase; Infection

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN;

ACUTE GASTROENTERITIS; ACUTE OTITIS MEDIA; ADOLESCENT; BACTERIAL ARTHRITIS; CERVICAL LYMPHADENOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENCEPHALITIS; EPIDIDYMITIS; FAMILY HISTORY; FREQUENCY ANALYSIS; HOSPITAL ADMISSION; HUMAN; INFANT; MALE; MENINGITIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OSTEOMYELITIS; PEDIATRICS; PNEUMONIA; PROGNOSIS; RECURRENT INFECTION; RETROSPECTIVE STUDY; REVIEW; SEPSIS; SINUSITIS; SKIN INFECTION; SOUTH KOREA; URINARY TRACT INFECTION; X LINKED AGAMMAGLOBULINEMIA;

ADOLESCENT; AGAMMAGLOBULINEMIA; CHILD; CHILD, PRESCHOOL; GENETIC DISEASES, X-LINKED; HOSPITALS; HUMANS; INFANT; MALE; PROTEIN-TYROSINE KINASES; RETROSPECTIVE STUDIES; TIME FACTORS;

EID: 41949142535     PISSN: 05135796     EISSN: None     Source Type: Journal    
DOI: 10.3349/ymj.2008.49.1.28     Document Type: Review

References (20)

1. Parolini O, Hejtmancik JF, Allen RC, Belmont JW, Lassiter GL, Henry MJ, et al. Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics 1993;15:342-9.
2. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature l993;361226-33.
3. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993;72:279-90.
4. Chan KW, Chen T, Jiang L, Fok SF, Lee TL, Lee BW, et al. Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammagiobulinaemia by long PCR-direct sequencing. Int J Immunogenet 2006;33:205-9.
5. Rosen FS, Cooper MD, Wedgwood RJ. The primary immunodeficiencies (1). N Engl J Med 1984;311:235-42.
6. Campana D, Farrant J, Inamdar N, Webster AD, Janossy G. Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia. J Immunol 1990;145:1675-80.
7. Kwan SP, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest 1986;77:649-52.
8. Bruton OC, Agammaglobulinemia. Pediatrics 1952;9: 722-8.
9. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006;85:193-202.
10. Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 2002;141:566-71.
11. Vihinen M, Kwan SP, Lester T, Ochs HD, Resnick I, Valiaho J, et al. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. Hum Mutat 1999;13:280-5.
12. Moin M, Aghamohammadi A, Farhoudi A, Pourpak Z, Rezaei N, Movahedi M, et al. X-linked agammaglobulinemia: a survey of 33 Iranian patients. Immmunol Invest 2004;33:81-93.
13. Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol 2002;104:221-30.
14. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Societv for Immunodeficiencies). Clin Immunol 1999;93:190-7.
15. Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, et al. Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 1998;91:595-602.
16. Jo EK, Song CH, Park JK, Lee JH, Kim DS. Protein and genetic analysis of Bruton's tyrosine kinase (Btk) in three Korean x-linked agammaglobulinemi a (XLA) families. J Korean Pediatr Soc 2002;45:44-54.
17. Bykowsky MJ, Haire RN, Ohta Y, Tang H, Sung SS, Veksler ES, et al. Discordant phenotype in siblings with X-linked agammaglobulinemia. Am J Hum Genet 1996; 58:477-83.
18. Minor PD. Biosafety consequences of eradication of wild-type polioviruses. Lancet 2001;358:166-8.
19. Halliday F, Winkelstein J, Webster AD. Enteroviral infections in primary immunodeficiency (PID): a survey of morbidity and mortality. J Infect 2003;46:1-8.
20. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 1985;64:145-56.