Disease relevance of Agammaglobulinemia

• One patient with Coombs-positive hemolytic anemia who had no response to three courses of fludarabine had a partial remission, with resolution of hypogammaglobulinemia, when treated with 2-chlorodeoxyadenosine [1].
• We undertook this study to determine whether patients with late-onset hypogammaglobulinemia, who are at very high risk for gastric cancer, have a reduced secretion of gastrin after stimulation with food or bombesin, a potent gastrin-releasing stimulus [2].
• The X chromosome-linked antibody deficiency disease, X-linked agammaglobulinemia (XLA), results from failure of B lymphoid development [3].
• Patients with common variable hypogammaglobulinemia, thymoma and hypogammaglobulinemia, ataxia telangiectasia, and selective IgA deficiency had significantly decreased mean serum IgE concentrations [4].
• In the past year, researchers have identified the genes responsible for X-linked severe combined immunodeficiency (encoding a cytokine receptor protein), X-linked agammaglobulinemia (encoding a cytoplasmic tyrosine kinase) and X-linked hyper IgM syndrome (encoding the ligand for CD40) [5].

Psychiatry related information on Agammaglobulinemia

• Other examples of systemic disease that predispose to septic arthritis are systemic lupus erythematosus, hypogammaglobulinemia, and human immunodeficiency virus infection, as well as intravenous drug abuse [6].

High impact information on Agammaglobulinemia

• BACKGROUND: Most patients with congenital hypogammaglobulinemia and absent B cells are males with X-linked agammaglobulinemia, which is caused by mutations in the gene for Bruton's tyrosine kinase (Btk); however, there are females with a similar disorder who do not have mutations in this gene [7].
• Two amino acids in the PLC-delta 1 PH domain that contact Ins(1,4,5)P3 have counterparts in the Bruton's tyrosine kinase (Btk) PH domain, where mutational changes cause inherited agammaglobulinemia, suggesting a mechanism for loss of function in Btk mutants [8].
• Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia [9].
• Decreased gastrin secretion in patients with late-onset hypogammaglobulinemia [2].
• However, only 3 of 46 patients in whom the vaccine failed and who were tested for hypogammaglobulinemia had this finding, and none of 33 children tested for IgG2 had low serum concentrations of this immunoglobulin subclass, which is thought to be important in the immune response to polysaccharide antigens [10].

Chemical compound and disease context of Agammaglobulinemia

• Because of evidence of a possible immunoregulatory role for cimetidine, an antagonist to histamine H2 receptors, we studied the effects of this drug in five adult patients with common variable hypogammaglobulinemia [11].
• During a remission of Tr-CLL, and while receiving cyclophosphamide therapy, he recovered from PRCA and hypogammaglobulinemia [12].
• Sera from patients with agammaglobulinemia, C4 deficiency, or C6 deficiency all induced demyelination [13].
• She was subsequently treated with prednisone and intermittent cyclophosphamide for six years, and severe hypogammaglobulinemia associated with recurrent infections developed; disease remained active and serum DNA binding high [14].
• This case is compared with previous reports of diphenylhydantoin-associated hypogammaglobulinemia in non-HIV-infected patients [15].

Biological context of Agammaglobulinemia

• Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA) [16].
• To determine the proportion of affected patients who have defects in the micro heavy chain (IGHM) gene, we used single-stranded conformational polymorphism analysis to screen genomic DNA from 40 unrelated patients with early onset infections, profound hypogammaglobulinemia, and absent B cells [17].
• A molecular linkage analysis in 11 families with X-linked agammaglobulinemia (XLA) localized the XLA gene to the proximal part of the long arm of the human X chromosome [18].
• Mutation of Bruton's tyrosine kinase (Btk) impairs B cell maturation and function and results in a clinical phenotype of X-linked agammaglobulinemia [19].
• Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease [20].

Anatomical context of Agammaglobulinemia

• The data suggest that H2-receptor antagonists may decrease excessive suppressor-cell activity and allow endogenous immunoglobulin production in some patients with common variable hypogammaglobulinemia [11].
• Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia [21].
• Ecto-5'-nucleotidase activity in human T cell subsets. Decreased numbers of ecto-5'-nucleotidase positive cells from both OKT4+ and OKT8+ cells in patients with hypogammaglobulinemia [22].
• Syndrome of neutrophil agranulocytosis, hypogammaglobulinemia, and thymoma [23].
• We used a modified colony survival assay to measure the sensitivity to ionizing radiation of more than 50 lymphoblastoid cell lines from normal individuals and from patients with ataxia-telangiectasia, Nijmegen breakage syndrome variants, and X-linked agammaglobulinemia [24].

Gene context of Agammaglobulinemia

• We investigated the in vivo effects of one bolus injection (400 mg/kg) of intravenous immunoglobulin (IVIG) on a number of cytokines, soluble cytokine receptors, and interleukin-1 receptor antagonist (IL-1Ra) in plasma in 12 patients with primary hypogammaglobulinemia [25].
• Heterozygous truncating mutations in the CXCR4 intracellular tail cause a rare genetic disease known as WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis), whose pathophysiology remains unclear [26].
• RESULTS: An enhanced production of tumor necrosis factor (TNF)-alpha, TNF-beta, and IL-10 was observed in transient hypogammaglobulinemia; whereas secretion of IL-1, IL-4, and IL-6 was essentially similar in the control and patient groups [27].
• This pattern of immunoglobulin rearrangements, along with the phenotypic cell surface antigen characteristics (CD19-), suggest that an earlier arrest in B cell development than is characteristic of Bruton's X-linked agammaglobulinemia has occurred in this patient [28].
• Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia [29].

Analytical, diagnostic and therapeutic context of Agammaglobulinemia

• Furthermore, serological immunological abnormalities like hyper- or hypogammaglobulinemia, positivities of antinuclear antibody, positivities of direct Coombs test, or inverted CD4/8 ratios were found in 18-65% of patients with MDS [30].
• We identified the cd gamma kinase by Western blotting and by partial phosphopeptide mapping as Btk, the B-cell tyrosine kinase found to be defective in X-linked agammaglobulinemia [31].

References