Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience
نویسندگان
چکیده
منابع مشابه
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship betwee...
متن کاملClinical and mutational features of Vietnamese children with X-linked agammaglobulinemia
BACKGROUND X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Viet...
متن کاملneutropenia associated with x-linked agammaglobulinemia
x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...
متن کاملB cells in patients with X-linked agammaglobulinemia.
X-linked agammaglobulinemia (XLA) has been described as a disorder in which pre-B cells fail to differentiate into B cells. However, a small number of B cells have been seen occasionally in patients with this disorder. Because the phenotype of these cells might be helpful in defining the site of the defect in XLA, immunofluorescent staining techniques were used to characterize the B cells that ...
متن کامل[X-linked agammaglobulinemia: experience in a Portuguese hospital].
INTRODUCTION X-Linked agammaglobulinemia (XLA) is characterized by an arrest of B cell differentiation, leading to recurrent bacterial infections. Lifelong immunoglobulin replacement therapy (IRT) is indicated to prevent infections and their complications. MATERIAL AND METHODS A retrospective study of patients with XLA followed in a level three hospital was performed; data was collected retro...
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ژورنال
عنوان ژورنال: Scandinavian Journal of Immunology
سال: 2018
ISSN: 0300-9475
DOI: 10.1111/sji.12647