An Adolescent with Hyperimmunoglobulinemia D and Periodic Fever Syndrome Responding to Simvastatin Treatment

The hyperimmunoglobulinemia D and periodic fever syndrome is proposed to be caused by a defect in the activity of mevalonate kinase enzyme which is involved in cholesterol and non-sterol isoprenoid biosynthesis. This autosomal recessive inherited auto-inflammatory syndrome is characterized by recurrent fever attacks, abdominal pain, lymphadenopathy, skin lesions and joint involvement. In this article, we present our therapeutic approach with the hypolipidemic agent, simvastatin, in a 12-year-old boy followed up with a diagnosis of hyperimmunoglobulinemia D and periodic fever syndrome. Simvastatin treatment of an adolescent with hyperimmunoglobulinemia D and periodic fever syndrome unresponsive to anti-inflammatory strategies has resulted in a favorable outcome. This treatment is thought to reduce the recurrent fever attacks by reducing the mevalonic acid increase or isopreniod shortage

Bloom syndrome: presentation of two siblings

Bloom syndrome is a rare autosomal recessive syndrome characterized by proportional dwarfism, characteristic facial findings, photosensitivity, telangiectasia, well-circumscribed dermal hypo-or hyperpigmented lesions, immunodeficiency, and infertility. Ten-and 3-year-old sibling patients were thought to have Bloom syndrome due to failure to thrive, cafe-au-lait spots and giant nevi on the legs. The older sibling was operated for Wilms' tumor at 4 years of age. The diagnosis was confirmed with increased sister chromatid exchanges in peripheral blood cells in both cases. In patients with Bloom syndrome, prevention of recurrent respiratory and gastrointestinal infections and close monitoring of the patients regarding immunodeficiency and endocrinologic diseases are important issues. In Bloom syndrome, the mutation in the 15q26.1 region of the BLM gene, leading to protein loss and increased frequency of sister chromatid exchanges, promotes malignancy formation. Minimization of sun exposure is important in terms of malignancy development, which is the main cause of deaths in the 2nd and 3rd decades. In this report, we aimed to present information about the clinical findings, prognosis and immunological features of Bloom syndrome

Mycobacterium vaccae immunization to OVA sensitized pregnant BALB/c mice suppressed placental and postnatal IL-5 and inducing IFN-gamma secretion

Although the development of atopy in the newborn is determined by a multitude of factors, an intense Th1 stimulus early in life could be protective by facilitating a switch away from Th2. Aimed to determine the effect of single Mycobacterium vaccae (M. vaccae) immunization to OVA-sensitized pregnant mice on IL-5 and IFN-gamma secretion from placental lymphocytes and splenocytes of offspring

Treatment with Mycobacterium vaccae ameliorates airway histopathology in a murine model of asthma.

The objective of this study was to evaluate the effect of intratracheal (i.t.) or subcutaneous (s.c.) Mycobacterium vaccae treatment on lung histopathology and cytokine responses in a murine model of asthma. BALB/c mice were divided into four groups. To establish an asthma model, Groups I, II and III received intraperitoneal (i.p.) ovalbumin (OVA) and were challenged with i.t. OVA three times (days 41-47). On the same days, mice in Groups I and II were treated with i.t. and s.c. Mycobacterium vaccae, respectively. Mice in Group IV served as controls. On day 49, lungs were taken out for histopathological evaluation. Cytokine levels were determined in splenocyte culture supernatants by ELISA. The thickness of basement membrane and hyperplasic goblet cells in small airways were found to be significantly more in Group III than Group I. Furthermore, smooth muscle and epithelial thickness in small and large airways and hyperplasic goblet cell numbers in all sized airways of this treatment group were not significantly different from controls. Epithelial thickness in medium and large airways, hyperplasic goblet cells in all sized airways, and basement membrane in small and large airways were not significantly different in Group II when compared to controls. OVA-stimulated IL-5 levels was significantly higher in Group I when compared to Group III. OVA-stimulated IL-5 and spontaneous IL-5 levels were significantly higher in Group 11 than Group III. We demonstrate that subcutaneous and intratracheal Mycobacterium vaccae administered along with allergen has an ameliorating effect in the modulation of airway histopathological changes in OVA sensitized mice

Long term follow-up of hyperimmunoglobulin M syndrome cases

Objective: Hyperimmunoglobulin M (HIGM) syndromes are primary immunodeficiencies characterized by normal or elevated serum IgM levels with decreased levels of other immunoglobulin isotypes. Over the past decade rapid progress has been made in the molecular and genetic basis of HIGM and five distinct subgroups have been described

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa tyrosine phosphoprotein and associates with the chain zeta and undergoes tyrosine phosphorylation following TCR stimulation. It is expressed in T and natural killer (NK) cells. Several mutations were shown to lead to an autosomal recessive form of severe combined immunodeficiency disease (SCID)

House Dust Mites Confer a Distinct Immunological Feature among Dermatitis

Atopic dermatitis (AD) is a heterogeneous disease with regard to clinical phenotype and natural history. We investigated T cell subtypes and cytokine responses in peripheral blood and skin lesions of AD patients with various sensitivities