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Indian Journal of Pediatrics, 2016
X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe ...
Deepti Suri, Amit Rawat, Surjit Singh
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X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe ...
Deepti Suri, Amit Rawat, Surjit Singh
exaly +5 more sources
Genotype/phenotype correlations in X-linked agammaglobulinemia
Clinical Immunology, 2006No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the ...
Arnon, Broides +2 more
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Immunology and Allergy Clinics of North America, 2001
B-lymphocyte development is essential for production of functional antibody and humoral immune responses. The mechanisms that regulate this process are complex and tightly regulated. Defects in nonredundant components of this pathway lead to a clinical and immunologic syndrome of congenital agammaglobulinemia with absence of B-cell development.
Hubert B. Gaspar, Christine Kinnon
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B-lymphocyte development is essential for production of functional antibody and humoral immune responses. The mechanisms that regulate this process are complex and tightly regulated. Defects in nonredundant components of this pathway lead to a clinical and immunologic syndrome of congenital agammaglobulinemia with absence of B-cell development.
Hubert B. Gaspar, Christine Kinnon
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Clinical Reviews in Allergy & Immunology, 2000
The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different.
M E, Conley, J, Rohrer, Y, Minegishi
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The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different.
M E, Conley, J, Rohrer, Y, Minegishi
openaire +2 more sources
Neutropenia in X-Linked Agammaglobulinemia
Clinical Immunology and Immunopathology, 1996X-linked agammaglobulinemia (XLA) is usually considered a disorder of B cell development; however, the gene that is defective in XLA encodes a cytoplasmic tyrosine kinase called Btk, that is expressed throughout myeloid as well as B cell differentiation. A review of medical records of patients in whom mutations in Btk had been identified indicated that
J E, Farrar, J, Rohrer, M E, Conley
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X-Linked agammaglobulinemia and gastric adenocarcinoma
Cancer, 1993The incidence and mortality rate for cancer in patients with primary immunodeficiency diseases have increased greatly. Lymphomas constitute more than 50% of tumors identified in the Immunodeficiency Cancer Registry, but solid tumors are frequent in these patients, especially gastric carcinomas.
P, Lavilla +5 more
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Multiple Colorectal Neoplasms in X-Linked Agammaglobulinemia
Clinical Gastroenterology and Hepatology, 2008X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. It is characterized by disturbed B-cell development, decreased immunoglobulin levels, and increased patient susceptibility to infection.
Brosens, Lodewijk A. A. +7 more
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Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes
Science, 1993Mice that bear the X-linked immunodeficiency ( xid ) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (
J D, Thomas +5 more
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[X-linked agammaglobulinemia: an update].
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2004X-linked agammaglobulinemia (X-LA) was the first described and remains the most common inherited antibody deficiency. Although initially reported by Bruton in early fifties, full clinical picture and detailed pathogenesis were established recently. X-LA was the first immunodeficiency to be mapped to a specific locus in the human genome based on linkage
Rafał, Pawliczak, Marek L, Kowalski
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Giardiasis with Malabsorption in X-Linked Agammaglobulinemia
New England Journal of Medicine, 1972GASTROINTESTINAL disease is common among patients with variable immunodeficiency syndromes (IDS),1 2 3 4 but is rarely seen in patients with infantile X-linked agammaglobulinemia.2 , 5 In a recent study, Giardia lamblia was found to be the cause of gastrointestinal symptoms in seven of eight cases of variable IDS.6 G.
H D, Ochs, M E, Ament, S D, Davis
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