Results 171 to 180 of about 8,230 (206)

Multiple Colorectal Neoplasms in X-Linked Agammaglobulinemia

Clinical Gastroenterology and Hepatology, 2008
X-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., Tytgat, Kristien M. A. J., Morsink, Folkert H. M., Sinke, Richard J., ten Berge, Ineke J. M., Giardiello, Francis M., Offerhaus, G. Johan A., Keller, Josbert J.   +7 more
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Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

Science, 1993
Mice 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, P, Sideras, C I, Smith, I, Vorechovský, V, Chapman, W E, Paul   +5 more
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Genotype/phenotype correlations in X-linked agammaglobulinemia

Clinical Immunology, 2006
No 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, Wenjian, Yang, Mary Ellen, Conley   +2 more
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[X-linked agammaglobulinemia: an update].

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2004
X-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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Progressive Encephalopathy Associated with X-Linked Agammaglobulinemia

European Neurology, 1982
Bruton type agammaglobulinemia is an X-linked disease with humoral immunological deficiency. Children with congenital agammaglobulinemia develop bacterial infections easily.
T. Sacquegna, Pazzaglia P, Baldrati A, D'Alessandro R, De Carolis P, Masi M, Fantini MP, PAOLUCCI, Paolo   +7 more
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X‐linked agammaglobulinemia complicated with endobronchial tuberculosis

Acta Paediatrica, 2010
AbstractAim:  We report a case of X‐linked agammaglobulinemia complicated with endobronchial tuberculosis.Methods:  We observed the patient’s clinical course and analysed his data retrospectively.Results: Interestingly, the T‐cell proliferation activity in this patient was intact, and the CD4‐positive T cells produced interferon gamma.
Chihiro, Kawakami, Akiko, Inoue, Kimitaka, Takitani, Hirokazu, Kanegane, Toshio, Miyawaki, Hiroshi, Tamai   +5 more
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Maternal germinal mosaicism of X‐linked agammaglobulinemia

American Journal of Medical Genetics, 2001
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by abnormalities in tyrosine kinase (BTK), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of BTK protein and analyzed the BTK gene (BTK) in peripheral blood mononuclear cells from two siblings with XLA and additional family members ...
M, Sakamoto, H, Kanegane, H, Fujii, S, Tsukada, T, Miyawaki, N, Shinomiya   +5 more
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X-Linked Agammaglobulinemia and Bruton’s Tyrosine Kinase

1994
The genetic defect associated with human X-linked agammaglobulinemia (XLA) and murine X-linked immunodeficiency (XID) was recently identified as the deficiency of function of a new cytoplasmic tyrosine kinase called Bruton’s tyrosine kinase (Btk)1,2,3,4. The phenotypes associated with these immunodeficiencies indicate that Btk plays a crucial role in B
S, Tsukada, O N, Witte
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X-linked agammaglobulinemia

2023
Domenico Nicoletti, Yuranga Weerakkody, Henry Knipe   +2 more
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Atypical X-linked agammaglobulinemia - reply

1994
To the Editor: The letter of Kornfeld et al. raises two separate questions: Do some patients with mild hypogammaglobulinemia have defects in the same gene as patients with typical X-linked agammaglobulinemia? Can you predict the clinical phenotype of X-linked agammaglobulinemia on the basis of the site of the Btk mutation?
Parolini, Ornella, Rohrer, J, Conley, Me
openaire   +1 more source