From the Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatrics, Faculty of Medicine Toyama Medical and Pharmaceutical University, Toyama, Japan; Division of Molecular Population Genetics, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan; Departments of Pediatrics, Kyushu Kouseinenkin Hospital, Kitakyushu, Japan; and Department of Molecular Medicine, Osaka University Medical School, Osaka, Japan.
We analyzed the cause of agammaglobulinemia in a girl whose father had been diagnosed as having X-linked agammaglobulinemia (XLA). Flow cytometric analysis revealed the lack of peripheral B cells with the block of B-cell differentiation in the stages between pro-B cells and pre-B cells in the bone marrow, and the defect of the Bruton tyrosine kinase (BTK) expression on monocytes. We found a BTK gene mutation in the first single base pair of intron 11 in her father and heterozygous mutation in the patient at the site. Sequence analysis of abnormally smaller-sized polymerase chain reaction (PCR) products of cDNA confirmed splicing abnormalities due to the mutation. Maternally derived X chromosome was exclusively inactivated in peripheral blood and oral mucosal cells. This is the first report of female XLA caused by heterozygous BTK gene abnormality and extreme nonrandom inactivation of X chromosome on which normal BTK gene is located.
Successful repair of chronic instability of anterior chest wall following right parasternal approach for closure of atrial septal defect in a young female
Female Mice Lacking Estrogen Receptor ; Display Prolonged Ventricular Repolarization and Reduced Ventricular Automaticity After Myocardial Infarction
Nature Usually Favors Females
Estimating Female-to-Male Infectivity of HIV-1 in Kenya: Potential Threats to Validity
Female-to-Male Infectivity of HIV-1 among Circumcised and Uncircumcised Kenyan Men
Female Genital-Tract HIV Load Correlates Inversely with Lactobacillus Species but Positively with Bacterial Vaginosis and Mycoplasma hominis
Inheritance of Susceptibility to Induced Escherichia coli Bladder and Kidney Infections in Female C3H/HeJ Mice
Cellular Human Immunodeficiency Virus (HIV)Protective Factors: A Comparison of HIV-Exposed Seronegative Female Sex Workers and Female Blood Donors in Abidjan, Côte d'Ivoire
Mutation of the Follicle-Stimulating Hormone Receptor Gene 5'-Untranslated Region Associated With Female Hypertension
Brachial Blood Pressure But Not Carotid Arterial Waveforms Predict Cardiovascular Events in Elderly Female Hypertensives