نتایج جستجو برای: xla
تعداد نتایج: 206 فیلتر نتایج به سال:
Ig protein and mRNA expression was examined in a collection of 18 monoclonal EBV-transformed B cell lines derived from five patients with X-linked agammaglobulinemia (XLA). A diversity of H and L chain isotypes were synthesized by these lines: the majority (12 lines) expressed mu kappa chains, while mu lambda (two lines), gamma kappa (one), gamma lambda (one), delta lambda (one), and alpha kapp...
The filamentous fungi XLA and XLC isolated from Cd-contaminated soil were identified morphologically and phylogenetically as Paecilomyces lilacinus and Mucoromycote sp., respectively. The minimum inhibitory concentrations (MICs) of Cd2+, Co2+, Cu2+, Zn2+, Cr3+ and Cr6+ in minimum mineral (MM) medium agar plates were 29,786, 2945, 9425, 5080, 1785 and 204 mg · L(-1) for XLA and 11,240, 884, 9100...
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton's tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development. Here, we assessed the potential of antisense, splice-correcting oligonucleotides (SCOs) targeting mutated BTK transcripts for treating XLA. Bot...
Forty-one adults (mean age 33) with a definitive diagnosis of X-linked agammaglobulinemia (XLA) completed a questionnaire concerning current and past medical problems and quality of life. Thirty-six of the 41 were working full time or were full time students; 18 had not missed any work or school due to infection in the previous year. Their quality of life was equivalent to that of the general U...
BACKGROUND X-linked agammaglobulinemia (XLA) is a rare inherited disease characterized by recurrent bacterial infections, a paucity or absence of peripheral lymphoid tissue, an absence of circulating B cells, and marked depression of serum IgG, IgA, and IgM. Germline mutation of the BTK gene has been identified as a cause of XLA. These mutations cause defects in early B cell development. CASE...
X-linked agammaglobulinemia (XLA) results from failure of B lymphocyte development. Immature B cells from a patient with XLA were found to produce truncated mu and delta immunoglobulin H chains encoded by D-JH-C (mu delta). The 5' terminal sequence of cDNA encoding the H chains is composed of D-JH with the characteristic GGTTTGAAG/CACTGTG consensus sequence utilized for VH gene rearrangement up...
BACKGROUND The diagnosis of X-linked agammaglobulinemia (XLA) is not always clearcut. Not all XLA conform to the classic phenotype and less than 50% of affected boys have a family history of immunodeficiency. Mutations in the gene for Bruton's tyrosine kinase (BTK) are responsible for the majority of agammaglobulinemia cases. However, a certain proportion of patients may have mutations involvin...
X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. We describe a 12-year-old boy with XLA and enthesitis-related arthritis (ERA). To date, there has been a paucity of reports of noninfectious inflammatory arthritis in children with XLA. This case ill...
To probe the molecular interactions of factor Xl we have prepared two monoclonal antibodies (MoAbs; 5F7 and 3C1 ), each of which binds the heavy chain of reduced and alkylated factor Xla. Competitive solid phase radioimmunoassay (RIA) binding studies revealed that 5F7 and 3C1 are directed against different epitopes within factor Xl. One antibody (5F7) blocked the surface-mediated proteolytic ac...
Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family hist...
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