title: Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton's disease.
abstract: OBJECTIVE
  X-linked agammaglobulinemia (XLA, also called Bruton's disease) is is an X-linked recessive disorder characterized by recurrent bacterial infections, usually occurring in the first few years of life. Here, we report the results of a BTK gene mutation screening study that was performed in Taiwanese families with the BTK gene defect to further understand the inheritance patterns of XLA patients in Taiwan and to avoid new cases of XLA within families.
  
  
  METHODS
  In this study, 52 members of 4 unrelated Taiwanese families with the BTK gene defect were enrolled. We studied the immunologic reports of 6 symptomatic living male patients with confirmed BTK gene defects and correlated the findings with their clinical symptoms. The genomic DNA of the subjects was subjected to direct sequencing mutation analysis.
  
  
  RESULTS
  We screened 52 members of 4 unrelated Taiwanese families with the BTK gene defect for BTK gene mutation and found that there were 6 symptomatic living patients with a confirmed defect, 7 symptomatic deceased patients highly suspected to have had the defect and 11 asymptomatic female carriers.
  
  
  CONCLUSIONS
  This is the first report in a series of the thorough screening for the BTK mutation and its carrier status in 4 unrelated Taiwanese families. One pedigree of our study comprises 4 generations. A complete BTK gene mutation study for the patient's family members is strongly suggested.
authors: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Kuo-Hsi
authors: KH
authors: Lee
authors: Shyh-Dar
authors: SD
authors: Shyur
authors: Szu-Hung
authors: SH
authors: Chu
authors: Li-Hsin
authors: LH
authors: Huang
authors: Yu-Hsuan
authors: YH
authors: Kao
authors: Wei-Te
authors: WT
authors: Lei
authors: Chieh-Han
authors: CH
authors: Cheng
authors: Chia-Yi
authors: CY
authors: Lo
authors: Chen-Kuan
authors: CK
authors: Chen
authors: Ling-Chun
authors: LC
authors: Liu
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000172:deficiency* / Q000235:genetics*; D013624:Taiwan
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human