The hyper-IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X-linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The patient experienced recurrent pneumonia and acute respiratory distress syndrome (ARDS) from 4 months ...

‎Let G=(V(G),E(G)) be a simple connected graph with vertex set V(G) and edge‎ ‎set E(G)‎. ‎The (first) edge-hyper Wiener index of the graph G is defined as‎: ‎$$WW_{e}(G)=sum_{{f,g}subseteq E(G)}(d_{e}(f,g|G)+d_{e}^{2}(f,g|G))=frac{1}{2}sum_{fin E(G)}(d_{e}(f|G)+d^{2}_{e}(f|G)),$$‎ ‎where de(f,g|G) denotes the distance between the edges f=xy and g=uv in E(G) and de(f|G)=∑g€(G)de(f,g|G). ‎In thi...

Article type: Review Article Hyper IgE Syndrome (HIES) is a rare primary immunodeficiency disease. Most of HIES cases are sporadic. Autosomal dominant HIES is caused by mutation in signal transducer and activator of transcription-3 (STAT-3). A number of mosaicism HIES has been reported that is associated with intermediate phenotype. Autosomal recessive HIES is due to mutation in Dock-8 or cytok...

in vitro fertilization (ivf) and other assisted reproductive technologies present an enormous hope to couples with fertility difficulties. assisted reproductive technology is one of the risk factors that can result in anxiety in these couples. indeed, ivf-treatments cause a stress, for both the woman and her partner. the different stages of the ivf-procedure can affect the emotional life of the...

Horses have 11 immunoglobulin isotypes: IgM, IgD, IgA, IgE, and seven IgG subclasses designated as IgG1-IgG7, each of which are distinguished by separate genes encoding the constant heavy chain regions. Immunoglobulin (Ig) isotypes have different functions during the immune response and pathogen-specific isotypes can be used as indicators for immunity and protection from disease. In addition to...

Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation. Many of these diseases share fever as a common presenting feature. Physicians need to consider AIDs in children with recurrent, unexplained fevers, when infectious and malignant causes have been discarded. This article discusses the differential diagnosis of recurrent fever in c...

OBJECTIVES To describe the clinical phenotype of a novel autosomal recessively inherited vitreoretinal dystrophy in one generation of a family originating from eastern Switzerland. METHODS A clinical study including electroretinographic investigations followed by laboratory-based genetic and molecular analysis. Four affected and 3 unaffected members of the family were examined. Ten candidate ...

Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing n...

background: release of vascular endothelial growth factor (vegf) by ovaries in response to hcg administration is one of the main mechanisms of ovarian hyper stimulation syndrome. since dopamine/dopamine receptor2 (dp-r2) pathway activity -mediated by vegf/ vascular endothelial growth factor receptor 2 (vegfr-2) signaling-, is associated with angiogenic events, dopamine agonists were used for th...