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X-linked agammaglobulinemia (XLA) is a rare hereditary primary immunodeficiency disorder caused by mutation in the Bruton's tyrosine kinase (BTK) gene located in the Xq22 region of the X chromosome. It is characterized by absolute or marked deficiency of
Avizit Sarker+4 more
doaj +1 more source
Chronic Enteroviral Meningoencephalitis in a Boy with X-Linked Agammaglobulinemia [PDF]
Os autores apresentam um caso clínico de encefalite crónica a enterovírus num rapaz de 9 anos com agamaglobulinémia congénita ligada ao cromossoma X (doença de Bruton). Apesar da terapêutica intraventricular com doses elevadas de gamaglobulina, registou-
Alves, A+4 more
core
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India
BackgroundThere is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.MethodsData on XLA from all regional centers supported by ...
Amit Rawat+41 more
doaj +1 more source
A distinct role for B1b lymphocytes in T cell-independent immunity [PDF]
Pathogenesis of infectious disease is not only determined by the virulence of the microbe but also by the immune status of the host. Vaccination is the most effective means to control infectious diseases.
A Faili+123 more
core +2 more sources
Micro RNA 145 targets the insulin receptor substrate-1 and inhibits the growth of colon cancer cells [PDF]
The insulin receptor substrate-1 (IRS-1), a docking protein for both the type 1 insulin-like growth factor receptor (IGF-IR) and the insulin receptor, is known to send a mitogenic, anti-apoptotic, and anti-differentiation signal. Several micro RNAs (miRs)
Baserga, Renato+5 more
core +2 more sources
Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient?
The loss of inflammatory regulation resulting from the absence of B-lymphocytes leads to a risk for autoimmune and autoinflammatory complications. There is no data on the use of Vedolizumab in patients with X-linked agammaglobulinemia (XLA) as well as ...
Şükrü Çekiç+4 more
doaj +1 more source
Arthritis and X-linked agammaglobulinemia.
Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system. Immunodeficiency and arthritis can be related, although the mechanisms are not always clear.
Machado, P+5 more
openaire +2 more sources
X-linked agammaglobulinemia: Experience in a Portuguese hospital
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.A retrospective study of patients with XLA followed in a level three hospital was performed; data was collected
Susana Fernandes+5 more
openaire +3 more sources
Characterization of pathogenic germline mutations in human Protein Kinases [PDF]
Background: Protein Kinases are a superfamily of proteins involved in crucial cellular processes such as cell cycle regulation and signal transduction. Accordingly, they play an important role in cancer biology. To contribute to the study of the relation
Baresic, A+5 more
core +1 more source
X-linked agammaglobulinemia (XLA) is an X-linked inherited disease usually caused by a germline mutation in the BTK gene leading to Bruton’s tyrosine kinase deficiency, which results in the impaired development of B-lymphocytes and a subsequent lack of ...
Joud Hajjar+4 more
doaj +1 more source