JOB'S SYNDROME: A RARE CASE REPORT

Hyper IgE Syndrome (HIES) or Job's Syndrome is a complex primary immunodeciency disorder characterized by elevated serum IgE levels, recurrent skin rashes, eosinophilia, skeletal and connective tissue abnormalities. The patients also exhibit features of specic facies, retention of deciduous teeth and susceptibility to infections. HIES is a rare genetic disorder where some cases are inherited as autosomal dominant or autosomal recessive but most cases are supposedly sporadic. Hereby we present a case of 12-year-old male child admitted in the hospital with complaints of fever, skin rashes, intermittent abdominal pain and generalised lymphadenopathy. As there is no denite cure for HIES, the approach was directed towards conservative management. Due to the extreme paucity of reported cases in literature, this case report can help shed light on a syndrome of such rarity.

Job’s Syndrome With a Family History of Kawasaki Disease: A Case Presentation and Review of Literature

Background: Job’s syndrome or hyper-immunoglobulin E (IgE) syndrome (HIES) is an extremely rare primary immunodeficiency disease with an approximate annual incidence of less than 1/1000000. It is characterized by recurrent cold staphylococcal infections, unusual eczematous dermatitis, severe lung infections, and extensively high concentrations of the serum antibody IgE. Case Presentation: A typical case of Job’s syndrome with a family history of Kawasaki disease is presented in this study aiming at identifying the clinical features, investigational procedures, and management strategy, as well as evaluating the role of the ear, nose, and throat specialist and highlighting the probable relation between Job’s syndrome and Kawasaki disease. Conclusions: In general, early detection with proper care can prevent the progression of Job syndrome. In addition, the initiated treatment at the first signs of infection is mandatory for preventing long-term complications. There is a probable relation between Job and Kawasaki which requires more consideration.

In Silico Genetics: Identification of pathogenic nsSNPs in human STAT3 gene associated with Job’s syndrome

BackgroundAutosomal dominant hyper-IgE syndrome (AD-HIES) or Job’s syndrome is a rare immunodeficiesncy disease that classically presents in early childhood, characterized by eczematoid dermatitis, characteristic facies, pneumatoceles, hyperextensibility of joints, multiple bone fractures, scoliosis, atopic dermatitis and elevated levels of serum IgE (>2000 IU/ml). The term Autosomal dominant hyper-IgE syndrome has primarily been associated with mutations in STAT3 gene, Located in human chromosome 17q21.MethodsThe human STAT3 gene was investigated in dbSNP/NCBI, 962 SNPs were Homo sapiens; of which 255 were missense SNPs. This selected for in silico analysis by multiple in silico tools to investigate the effect of SNPs on STAT3 protein’s structure and function.ResultEleven novel mutations out of 255 nsSNPs that are found to be deleterious effect on the STAT3 structure and function.ConclusionA total of eleven novel nsSNPs were predicted to be responsible for the structural and functional modifications of STAT3 protein. The newly recognized genetic cause of the hyper-IgE syndrome affects complex, compartmentalized somatic and immune regulation. This study will opens new doors to facilitate the development of novel diagnostic markers for associated diseases.