‎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 $d_{e}(f,g|g)$ denotes the distance between the edges $f=xy$ and $g=uv$ in $e(g)$ and $d_{e}(f|g)=s...

Type 1 hyper IgE syndrome (HIES), also known as Job's Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, recurrent skin infections, multiple fractu...

Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor...

We describe the beneficial effects of treatment with cyclosporin A in a 10-year-old boy with hyperimmunoglobulin E and refractory nephrotic syndrome. The patient was initially resistant to steroid therapy with prednisolone alone. Additional therapy with cyclosporin A was then prescribed, effectively reducing levels of serum immunoglobulin E and preventing flare up of nephrotic syndrome.

V(D)J joining is mediated by RAG recombinase during early B-lymphocyte development in the bone marrow (BM). Activation-induced deaminase initiates isotype switching in mature B cells of secondary lymphoid structures. Previous studies questioned the strict ontological partitioning of these processes. We show that pro-B cells undergo robust switching to a subset of immunoglobulin H (IgH) isotypes...

background: defects in b cell class switch recombination (csr) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper igm (higm) syndrome. due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. objective: to shed some light on the morbidity and mortality regar...

RATIONALE A 62-year-old male patient was admitted to our clinic in February 2016 with persistently elevated liver enzymes. PATIENT CONCERNS Clinical history involved a long time of poly-autoimmunity with a rheumatoid arthritis (in remission under tocilizumab therapy), an autoimmune thyroiditis, an eosinophilia as well as a hyper-immunoglobulin (IgG) 4-syndrome. DIAGNOSES Laboratory studies ...