Results 151 to 160 of about 5,617 (179)

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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A case of X-linked agammaglobulinemia with progressive encephalitis

Pediatric Neurology, 2004
This report describes a case of agammaglobulinemia with progressive encephalitis. The patient was a 6-year-old male who was diagnosed as having Bruton-type agammaglobulinemia at age 6 months. After the diagnosis was made, he received monthly intravenous immunoglobulin replacement with a residual immunoglobulin G level of more than 400 mg/dL. At 5 years
Naohide, Shiroma, Tsuyoshi, Omi, Hideki, Hasegawa, Kazuo, Nagashima, Takao, Ohta   +4 more
openaire   +2 more sources

A Case of X-Linked Agammaglobulinemia Diagnosed in Adulthood

Clinical Immunology, 2001
X-linked agammaglobulinemia (XLA), caused by mutations in Bruton's tyrosine kinase (BTK), typically presents in early childhood. We report here the case of a male diagnosed at age 23 years with hypogammaglobulinemia, originally classified as common variable immunodeficiency (CVID).
D M, Stewart, L, Tian, D L, Nelson
openaire   +2 more sources

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 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
openaire   +2 more sources

Progressive Encephalopathy Associated with X-Linked Agammaglobulinemia

European Neurology, 2008
Bruton type agammaglobulinemia is an X-linked disease with humoral immunological deficiency. Children with congenital agammaglobulinemia develop bacterial infections easily. We describe a 15-year-old patient with infantile X-linked agammaglobulinemia who at the age of 8 years developed a progressive encephalopathy, characterized by rare generalized ...
T. Sacquegna, Pazzaglia P, Baldrati A, D'Alessandro R, De Carolis P, Masi M, Fantini MP, PAOLUCCI, Paolo   +7 more
openaire   +2 more sources

Lung transplantation in patients with x-linked agammaglobulinemia

Transplantation Proceedings, 2003
Lung transplantation is an established procedure to treat patients with end-stage lung disease. The criteria for recipient selection are broadening to include patients with congenital defects of the immune system, such as X-linked hypogammaglobulinemia (XLA). We report 2 cases of successful double lung transplantation in patients with XLA.
P, Morales, D, Hernández, R, Vicente, A, Solé, I, Moreno, J J, Torres, A, Lanuza   +6 more
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X-Linked agammaglobulinemia in a child with Klinefelter’s syndrome

Journal of Clinical Immunology, 2014
Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.
Cochino, Alexis-Virgil, Janda, Ales, Ravčuková, Barbora, Plaiasu, Vasilica, Ochiana, Diana, Gherghina, Ioan, Freiberger, Tomas   +6 more
openaire   +3 more sources

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
openaire   +1 more source