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Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.

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BACKGROUND Inflammation of the middle ear (otitis media) is very common and can lead to serious complications if not resolved. Genetic studies suggest an inherited component, but few of the genes that contribute to this condition are known. Mouse mutants have contributed significantly to the

Expression of vascular endothelial growth factor receptors in experimental otitis media in the rat.

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OBJECTIVE Increased vascular permeability and endothelial cell growth are important in the pathogenesis of otitis media with effusion (OME) and vascular endothelial growth factor (VEGF) is known to play an important role in the increased vascular permeability and angiogenesis associated with OME.

A single nasal dose of fms-like tyrosine kinase receptor-3 ligand, but not peritoneal application, enhances nontypeable Haemophilus influenzae-specific long-term mucosal immune responses in the nasopharynx.

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Nasal vaccination is an effective therapeutic regimen for preventing otitis media. In the development of nasal vaccine, an appropriate adjuvant is required. In the present study, we examined the efficacy of fms-like tyrosine kinase receptor-3 ligand (Flt3L) as a mucosal adjuvant. Flt3L was

Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice.

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Tubulin tyrosine ligase-like 1 (TTLL1) protein is a member of the tubulin tyrosine ligase superfamily of proteins that are involved in the posttranslational polyglutamylation of tubulin in axonemal microtubules within cilia and flagella. To investigate the physiological role of TTLL1, the authors

A novel Bruton's tyrosine kinase gene (BTK) invariant splice site mutation in a Malaysian family with X-linked agammaglobulinemia.

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X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton's tyrosine kinase (BTK) gene. These mutations cause defects in early B cell development. A patient with no circulating B cells and low serum immunoglobulin isotypes was studied as were his mother and

Clinical findings leading to the diagnosis of X-linked agammaglobulinemia.

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To evaluate whether the diagnosis of X-linked agammaglobulinemia (XLA) is being made in a timely fashion, the clinical findings leading to the diagnosis of XLA were determined in 82 patients with proven mutations in Bruton's tyrosine kinase (60 patients with sporadic disease and 22 patients with

Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome.

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BACKGROUND A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most

The in vivo glucocorticoid and antiglucocorticoid actions of medroxyprogesterone acetate.

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The in vivo glucocorticoid actions of medroxyprogesterone acetate [6 alpha-methyl-17-acetoxy-pregn-4-ene-3,20-dione (MPA)] were assessed in intact prepubertal female Wistar rats using five simultaneous assays: plasma glucose, plasma corticosterone, hepatic glycogen content, hepatic tyrosine

Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia.

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BACKGROUND 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. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common

A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia.

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X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this

Effects of cigarette smoking on mucin production in human middle ear epithelial cells.

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OBJECTIVE Otitis media (OM) is the most common disease in preschool age children related to passive cigarette smoking as risk factor. In this study, we investigate whether the cigarette smoking can induce the inflammation in human middle ear epithelial cell, and cigarette smoke-induced inflammation

[Clinical features of X-linked agammaglobulinemia: analysis of 8 cases].

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OBJECTIVE X-linked agammaglobulinemia (XLA), caused by mutations in Bruton's tyrosine kinase (BTK), is a common form of inherited antibody deficiency. There were very few case reports of this disease that were diagnosed only based on clinical findings in China. The purpose of this study was to

X-linked agammaglobulinemia in northern Thailand.

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X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed

D-amino acids do not inhibit Pseudomonas aeruginosa biofilm formation.

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Pseudomonas aeruginosa, a known biofilm-forming organism, is an opportunistic pathogen that plays an important role in chronic otitis media, tracheitis, cholesteatoma, chronic wounds, and implant infections. Eradication of biofilm infections has been a challenge because the biofilm phenotype

[X-linked agammaglobulinemia: experience in a Portuguese hospital].

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BACKGROUND X-Linked agammaglobulinemia (XLA) is characterized by an arrest of B cell differentiation, leading to recurrent bacterial infections. Lifelong immunoglobulin replacement therapy (IRT) is indicated to prevent infections and their complications. METHODS A retrospective study of patients

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