Agammaglobulinemia
Mostrando 1-12 de 68 artigos, teses e dissertações.
-
1. One-year intravenous immunoglobulin replacement therapy: efficacy in reducing hospital admissions in pediatric patients with Inborn Errors of Immunity
Abstract Objectives: To compare the frequency of hospitalization in children with Inborn Errors of Immunity with antibody deficiency previous to intravenous immunoglobulin (pre- IVIG) with a one-year period after initial IVIG (post-IVIG). Methods: Medical reports of 45 patients during an eight-year period were reviewed from 2018 to 2019. Wilcoxon-test was
Jornal de Pediatria. Publicado em: 2022
-
2. Colostrum and Serum Protein Levels in Water Buffaloes.
Blood serum samples and colostrum of 17 Murrah water buffalo cows (Bubalus bubalis) were examined at birth as well as their offspring before the ingestion of colostrum at 1, 3, 6, 12, 24, 48, 72 and 96 hours after birth to determine the failure in the passive transfer of an-tibodies. The parameters studied included the total protein (TP), albumin (ALB), alph
Pesquisa Agropecuaria Brasileira. Publicado em: 2011
-
3. Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose
Brazilian Journal of Medical and Biological Research. Publicado em: 2010-09
-
4. Mutações no gene da tirosina quinase de Bruton (Btk) de pacientes brasileiros com agamaglobulinemia ligada ao X (XLA) / Mutations of Bruton´s tyrosine kinase gene (BTK) in brazilian patients with X - linked agammaglobulinemia (XLA)
A agamaglobulinemia ligada ao X (XLA; OMIM#300755) é uma imunodeficiência primária humoral caracterizada por um bloqueio na diferenciação dos linfócitos B na medula óssea, levando à profunda hipogamaglobulinemia e reduzido número ou ausência de células B periféricas. Os pacientes com XLA são susceptíveis a infecções recorrentes por bactérias
Publicado em: 2010
-
5. Study of the BTK (Brutons Tyrosine Kinase) in patients with congenital agammaglobulinemia. / Estudo do gene btk (brutons tyrosine quinase) em pacientes com agamaglobulinemia congênita
X-linked Agammaglobulinemia (XLA) is a primary immunodeficiency characterized by the absence or decreased numbers of mature B cells in peripheral blood, and by a lack of all immunoglobulin isotypes, leading to an increased susceptibility to severe bacterial and enteroviral infections. XLA is caused by mutations in the gene encoding for Brutons tyrosine kinas
Publicado em: 2008
-
6. Recurrent pneumonia caused by genetic immunodeficiency: a prophylactic and rehabilitative approach
Recurrent infections are a consequence of a series of genetic diseases characterized by deficiency in the immunological response. One of these diseases is the agammaglobulinemia, which is characterized by the basic defect in the maturation of lymphocytes B. The carrier of this kind of immunodeficiency, which is linked to the X (XLA) chromosome, has had prima
Brazilian Journal of Infectious Diseases. Publicado em: 2007-06
-
7. Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.
X chromosome-linked agammaglobulinemia is a life-threatening disease that involves a failure in normal development of B lymphocytes and is associated with missense mutations in BTK, a gene encoding a cytoplasmic tyrosine kinase (Bruton agammaglobulinemia tyrosine kinase, EC 2.7.1.112), a member of the Tec family of protein-tyrosine kinases. The genomic organ
-
8. Studies on the in vitro behavior of agammaglobulinemic lymphocytes
Circulating lymphocytes from patients with congenital X-linked agammaglobulinemia, sporadic congenital agammaglobulinemia, and acquired agammaglobulinemia have been cultured in vitro. They have been shown to proliferate in a normal manner under stimulus of phytohemagglutinin and antigens to which the patient was sensitized. Agammaglobulinemic cells have been
-
9. Antihelper T cell autoantibody in acquired agammaglobulinemia.
A patient with acquired agammaglobulinemia had an antihelper T cell factor that was identified as an immunoglobulin of the IgG class. The factor specifically bound to the TH2- T cell subset and, in the presence of complement, abolished the helper effect of normal T cells. The antihelper T cell antibody preceded by several years the appearance of suppressor T
-
10. BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity
-
11. BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 463 mutation entries from 406 unrelated families showing 303 unique molecular events. In addition to mutations, the database
-
12. Failure of heavy chain glycosylation of IgG in some patients with common, variable agammaglobulinemia.
Four patients with common, variable agammaglobulinemia were preveiously reported to have normal numbers of circulating B lymphocytes which synthesized normal amounts of IgG in tissue culture but failed to secrete the newly synthesized IgG. The B lymphocytes of these patients fail to incorporate [3H]mannose and/or [3H]glucosamine into newly synthesized IgG, w